Variant report

Variant	esv2753232
Chromosome Location	chr22:22386446-22706546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6757)
CpG islands
(count:1711)
Chromatin interactive
region (count:339)
LncRNA
region (count:82)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6757 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22510976-22511458	K562	blood:	n/a	n/a
3	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
4	ARID3A	chr22:22652155-22652317	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
6	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22564820-22564910	K562	blood:	n/a	n/a
9	ARID3A	chr22:22697385-22697387	K562	blood:	n/a	n/a
10	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
11	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
12	ARID3A	chr22:22560720-22560804	HepG2	liver:	n/a	n/a
13	ARID3A	chr22:22477001-22477277	K562	blood:	n/a	n/a
14	ARID3A	chr22:22535924-22535987	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
16	ARID3A	chr22:22549750-22550101	K562	blood:	n/a	n/a
17	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
18	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
19	ATF1	chr22:22676475-22676643	K562	blood:	n/a	n/a
20	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
21	ATF1	chr22:22564831-22565179	K562	blood:	n/a	n/a
22	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
23	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
24	ATF1	chr22:22416087-22416336	K562	blood:	n/a	n/a
25	ATF1	chr22:22511153-22511471	K562	blood:	n/a	n/a
26	ATF1	chr22:22693003-22693116	K562	blood:	n/a	n/a
27	ATF1	chr22:22503937-22503949	K562	blood:	n/a	n/a
28	ATF1	chr22:22522930-22523217	K562	blood:	n/a	n/a
29	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
30	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
31	ATF1	chr22:22475770-22475855	K562	blood:	n/a	n/a
32	ATF1	chr22:22617203-22617304	K562	blood:	n/a	n/a
33	ATF1	chr22:22512634-22512947	K562	blood:	n/a	n/a
34	ATF2	chr22:22522113-22522443	GM12878	blood:	n/a	n/a
35	ATF2	chr22:22522066-22522590	GM12878	blood:	n/a	n/a
36	ATF2	chr22:22465320-22465759	GM12878	blood:	n/a	n/a
37	ATF2	chr22:22465784-22466187	GM12878	blood:	n/a	n/a
38	ATF2	chr22:22465462-22465708	GM12878	blood:	n/a	n/a
39	ATF2	chr22:22549799-22550171	GM12878	blood:	n/a	n/a
40	ATF2	chr22:22549842-22550256	GM12878	blood:	n/a	n/a
41	ATF3	chr22:22697043-22697711	K562	blood:	n/a	n/a
42	ATF3	chr22:22555276-22555936	K562	blood:	n/a	n/a
43	ATF3	chr22:22417489-22417881	K562	blood:	n/a	n/a
44	ATF3	chr22:22522552-22523212	K562	blood:	n/a	chr22:22523116-22523125 chr22:22523100-22523109
45	ATF3	chr22:22465310-22466153	K562	blood:	n/a	n/a
46	ATF3	chr22:22457385-22457914	K562	blood:	n/a	n/a
47	ATF3	chr22:22676411-22676663	K562	blood:	n/a	n/a
48	ATF3	chr22:22549389-22550617	K562	blood:	n/a	chr22:22550116-22550130
49	ATF3	chr22:22522878-22523288	H1-hESC	embryonic stem cell:	n/a	chr22:22523116-22523125 chr22:22523100-22523109
50	ATF3	chr22:22511756-22512212	K562	blood:	n/a	n/a

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22465502-22465552	HCT-116	colon:	n/a
2	chr22:22469147-22469197	ProgFib	skin:	n/a
3	chr22:22652273-22652323	AG09319	gingival:	n/a
4	chr22:22465502-22465552	HCT-116	colon:	n/a
5	chr22:22469147-22469197	ProgFib	skin:	n/a
6	chr22:22652273-22652323	AG09319	gingival:	n/a
7	chr22:22599128-22599178	H1-hESC	embryonic stem cell:	embryo
8	chr22:22574844-22574894	HRCEpiC	kidney:	n/a
9	chr22:22577791-22577841	PANC-1	pancreas:	n/a
10	chr22:22599128-22599178	Caco-2	colon:	n/a
11	chr22:22578641-22578691	AG09319	gingival:	n/a
12	chr22:22599189-22599239	HMEC	breast:	n/a
13	chr22:22471216-22471266	HL-60	blood:	n/a
14	chr22:22469457-22469507	AG09319	gingival:	n/a
15	chr22:22652273-22652323	HRPEpiC	eye:	n/a
16	chr22:22465502-22465552	HepG2	liver:	n/a
17	chr22:22652537-22652587	Jurkat	blood:	n/a
18	chr22:22577105-22577155	HRPEpiC	eye:	n/a
19	chr22:22652284-22652334	ovcar-3	ovarian:	n/a
20	chr22:22471930-22471980	NB4	blood:	n/a
21	chr22:22598937-22598987	H1-hESC	embryonic stem cell:	embryo
22	chr22:22652537-22652587	H1-hESC	embryonic stem cell:	embryo
23	chr22:22598937-22598987	HL-60	blood:	n/a
24	chr22:22469873-22469923	NHDF-neo	bronchial:	n/a
25	chr22:22652529-22652579	Caco-2	colon:	n/a
26	chr22:22471216-22471266	AG04450	lung:	fetal
27	chr22:22577105-22577155	HNPCEpiC	eye:	n/a
28	chr22:22597869-22597919	NB4	blood:	n/a
29	chr22:22578641-22578691	HCM	heart:	n/a
30	chr22:22652334-22652384	HAEpiC	amniotic membrane:	n/a
31	chr22:22471216-22471266	SKMC	muscle:	n/a
32	chr22:22652040-22652090	HEK293	kidney:	embryo
33	chr22:22577791-22577841	HL-60	blood:	n/a
34	chr22:22597869-22597919	RPTEC	kidney:	n/a
35	chr22:22581186-22581236	SAEC	small airway:	n/a
36	chr22:22599128-22599178	RPTEC	kidney:	n/a
37	chr22:22577105-22577155	RPTEC	kidney:	n/a
38	chr22:22469873-22469923	Jurkat	blood:	n/a
39	chr22:22469147-22469197	NB4	blood:	n/a
40	chr22:22652284-22652334	PFSK-1	brain:	n/a
41	chr22:22599189-22599239	ovcar-3	ovarian:	n/a
42	chr22:22472384-22472434	BJ	skin:	n/a
43	chr22:22598937-22598987	ovcar-3	ovarian:	n/a
44	chr22:22597965-22598015	PANC-1	pancreas:	n/a
45	chr22:22469457-22469507	GM12892	blood:	n/a
46	chr22:22599189-22599239	CMK	blood:	n/a
47	chr22:22652040-22652090	K562	blood:	n/a
48	chr22:22465502-22465552	HRCEpiC	kidney:	n/a
49	chr22:22471930-22471980	LNCaP	prostate:	n/a
50	chr22:22599332-22599382	ECC-1	luminal epithelium:	n/a

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr22:22397472..22399185-chr22:22416544..22418794,2	K562	blood:
2	chr22:22465437..22465959-chr22:22560354..22561300,2	K562	blood:
3	chr22:22510925..22511680-chr22:22560348..22561277,3	MCF-7	breast:
4	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
5	chr22:22290645..22292893-chr22:22385193..22387835,2	K562	blood:
6	chr22:22570224..22573721-chr22:22578873..22581896,3	K562	blood:
7	chr22:22331326..22332844-chr22:22424679..22426503,2	K562	blood:
8	chr22:22452652..22456548-chr22:22456730..22459011,3	K562	blood:
9	chr22:22488951..22490543-chr22:22494875..22497145,2	K562	blood:
10	chr22:22567401..22569139-chr22:22569649..22572473,2	MCF-7	breast:
11	chr22:22399565..22402444-chr22:22464431..22466617,2	K562	blood:
12	chr22:22472686..22474413-chr22:22517626..22520050,2	K562	blood:
13	chr22:22592762..22595692-chr22:22597920..22599584,2	K562	blood:
14	chr22:22540069..22542398-chr22:22548801..22550935,2	K562	blood:
15	chr22:22386520..22389011-chr22:22412787..22415149,2	K562	blood:
16	chr22:22463195..22465288-chr22:22490450..22492354,2	K562	blood:
17	chr22:22414688..22415532-chr22:22555572..22556261,2	K562	blood:
18	chr22:22511255..22511788-chr22:22522548..22523132,2	K562	blood:
19	chr22:22390102..22392769-chr22:22465098..22467700,2	K562	blood:
20	chr22:22412399..22413100-chr22:22428586..22429560,2	K562	blood:
21	chr22:22676504..22677010-chr22:22696889..22697870,2	MCF-7	breast:
22	chr22:22468976..22471518-chr22:22486324..22488004,2	K562	blood:
23	chr22:22217878..22219529-chr22:22513377..22516002,2	K562	blood:
24	chr22:22670951..22673086-chr22:22679317..22681609,2	K562	blood:
25	chr22:22086449..22088631-chr22:22421074..22423935,2	K562	blood:
26	chr22:22434212..22438844-chr22:22438880..22444803,6	K562	blood:
27	chr22:22675719..22677662-chr22:22681288..22683098,2	K562	blood:
28	chr22:22489016..22491119-chr22:22494831..22496666,3	K562	blood:
29	chr22:22415106..22415910-chr22:22549461..22550391,2	K562	blood:
30	chr22:22402070..22403893-chr22:22412853..22414786,3	K562	blood:
31	chr22:22459115..22461639-chr22:22463401..22465734,3	K562	blood:
32	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:
33	chr22:22390352..22393197-chr22:22410629..22412704,2	K562	blood:
34	chr12:2977360..2977880-chr22:22561948..22562503,2	K562	blood:
35	chr22:22452413..22458564-chr22:22459740..22463998,10	K562	blood:
36	chr22:22460350..22462658-chr22:22476870..22479125,2	K562	blood:
37	chr22:22465023..22465826-chr22:22499258..22499940,2	MCF-7	breast:
38	chr22:22474813..22478763-chr22:22480567..22486324,7	K562	blood:
39	chr22:22400946..22402797-chr22:22413673..22416089,2	MCF-7	breast:
40	chr22:22562037..22562877-chr22:22901557..22902139,2	K562	blood:
41	chr22:22489016..22491119-chr22:22494831..22496666,3	K562	blood:
42	chr22:22676137..22677020-chr22:22696880..22697433,3	K562	blood:
43	chr22:22522165..22523975-chr22:22538442..22540411,2	K562	blood:
44	chr22:22524321..22526485-chr22:22538320..22540568,3	K562	blood:
45	chr22:22566681..22568438-chr22:22596425..22598938,2	K562	blood:
46	chr1:25878078..25878597-chr22:22561964..22562900,3	K562	blood:
47	chr22:22590207..22592314-chr22:22594554..22596240,2	K562	blood:
48	chr22:22454729..22459452-chr22:22462176..22466634,7	K562	blood:
49	chr22:22402535..22405336-chr22:22415202..22417580,2	K562	blood:
50	chr22:22414798..22417040-chr22:22426863..22431113,3	K562	blood:

(count:82 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPREB1-17	chr22:22434336-22434673	NONHSAT083741
2	lnc-VPREB1-7	chr22:22657589-22657662	ENSG00000236850.4
3	lnc-VPREB1-7	chr22:22661155-22661388	NONHSAT083767
4	lnc-VPREB1-4	chr22:22553115-22553411	NONHSAT083759
5	lnc-VPREB1-7	chr22:22664101-22664248	NONHSAT083770
6	lnc-VPREB1-13	chr22:22509975-22510104	NONHSAT083747
7	lnc-VPREB1-7	chr22:22694197-22694237	NONHSAT083774
8	lnc-VPREB1-4	chr22:22552960-22553004	NONHSAT083759
9	lnc-VPREB1-24	chr22:22387143-22387194	NONHSAT083732
10	lnc-VPREB1-13	chr22:22510185-22510335	NONHSAT083747
11	lnc-VPREB1-7	chr22:22661471-22661610	ENSG00000236850.4
12	lnc-VPREB1-7	chr22:22677019-22677203	ENSG00000236850.4
13	lnc-VPREB1-5	chr22:22540331-22541009	NONHSAT083756
14	lnc-VPREB1-24	chr22:22387300-22387592	NONHSAT083732
15	lnc-VPREB1-7	chr22:22652521-22652576	NONHSAT083767
16	lnc-VPREB1-12	chr22:22702157-22702514	NONHSAT083777
17	lnc-VPREB1-7	chr22:22661155-22661268	ENSG00000236850.4
18	lnc-VPREB1-13	chr22:22478465-22478576	NONHSAT083746
19	lnc-VPREB1-7	chr22:22664020-22664248	NONHSAT083772
20	lnc-VPREB1-15	chr22:22458835-22459267	NONHSAT083743
21	lnc-VPREB1-7	chr22:22678059-22678287	NONHSAT083774
22	lnc-VPREB1-7	chr22:22675937-22676227	ENSG00000236850.4
23	lnc-ZNF280B-3	chr22:22638312-22641586	ENSG00000272216.1
24	lnc-VPREB1-7	chr22:22661898-22661958	NONHSAT083767
25	lnc-VPREB1-7	chr22:22676774-22677386	NONHSAT083774
26	lnc-VPREB1-7	chr22:22661471-22661872	NONHSAT083767
27	lnc-VPREB1-7	chr22:22675750-22675777	NONHSAT083772
28	lnc-VPREB1-7	chr22:22673254-22673989	NONHSAT083771
29	lnc-VPREB1-2	chr22:22390743-22390893	ENSG00000225070.1
30	lnc-TOP3B-4	chr22:22525369-22525942	NONHSAT083753
31	lnc-RTDR1-1	chr22:22677043-22677106	NONHSAT083775
32	lnc-VPREB1-7	chr22:22664101-22664248	NONHSAT083768
33	lnc-VPREB1-10	chr22:22516777-22517099	NONHSAT083749
34	lnc-VPREB1-19	chr22:22424805-22425118	NONHSAT083739
35	lnc-VPREB1-7	chr22:22664591-22664766	NONHSAT083772
36	lnc-VPREB1-8	chr22:22533618-22533867	NONHSAT083754
37	lnc-TOP3B-1	chr22:22390346-22390668	NONHSAT083730
38	lnc-VPREB1-19	chr22:22424636-22424681	NONHSAT083739
39	lnc-VPREB1-7	chr22:22673254-22673606	NONHSAT083772
40	lnc-VPREB1-7	chr22:22695935-22696169	NONHSAT083776
41	lnc-VPREB1-21	chr22:22412845-22413304	NONHSAT083737
42	lnc-VPREB1-15	chr22:22457629-22458457	NONHSAT083743
43	lnc-VPREB1-7	chr22:22657589-22657662	NONHSAT083767
44	lnc-VPREB1-7	chr22:22675750-22675867	NONHSAT083768
45	lnc-VPREB1-7	chr22:22664591-22664766	NONHSAT083771
46	lnc-VPREB1-7	chr22:22663461-22664248	NONHSAT083771
47	lnc-VPREB1-3	chr22:22574202-22574525	NONHSAT083760
48	lnc-VPREB1-7	chr22:22663062-22663184	ENSG00000236850.4
49	lnc-VPREB1-7	chr22:22673254-22673606	ENSG00000236850.4
50	lnc-VPREB1-23	chr22:22393042-22393087	NONHSAT083734

No data

Variant related genes	Relation type
IGLVIV-64	TF binding region
BMP6P1	TF binding region
ENSG00000225741	TF binding region
IGLV11-55	TF binding region
IGLV10-67	TF binding region
IGLV5-52	TF binding region
IGLVIV-59	TF binding region
IGLVIV-53	TF binding region
IGLVIV-65	TF binding region
IGLVI-63	TF binding region
IGLV4-60	TF binding region
ENSG00000234630	TF binding region
ENSG00000232515	TF binding region
IGLVV-58	TF binding region
IGLVI-56	TF binding region
ENSG00000234726	TF binding region
ENSG00000272779	TF binding region
IGLV10-54	TF binding region
ENSG00000225070	TF binding region
ABHD17AP5	TF binding region
IGLV5-48	TF binding region
PRAMENP	TF binding region
IGLV9-49	TF binding region
BMS1P20	TF binding region
ENSG00000233720	TF binding region
ENSG00000236118	TF binding region
IGLV6-57	TF binding region
TOP3BP1	TF binding region
IGLV8-61	TF binding region
IGLV1-62	TF binding region
VPREB1	TF binding region
IGLV1-51	TF binding region
ENSG00000228161	TF binding region
IGLVIV-66-1	TF binding region
ENSG00000225724	TF binding region
ENSG00000227710	TF binding region
ENSG00000272216	TF binding region
ENSG00000249333	TF binding region
IGLV1-50	TF binding region
IGLVV-66	TF binding region
SOCS2P2	TF binding region
IGLVI-68	TF binding region
IGLVIV-64	CpG island
BMP6P1	CpG island
ENSG00000225741	CpG island
IGLV11-55	CpG island
IGLV10-67	CpG island
IGLV5-52	CpG island
IGLVIV-59	CpG island
IGLVIV-53	CpG island
IGLVIV-65	CpG island
IGLVI-63	CpG island
IGLV4-60	CpG island
ENSG00000234630	CpG island
ENSG00000232515	CpG island
IGLVV-58	CpG island
IGLVI-56	CpG island
ENSG00000234726	CpG island
ENSG00000272779	CpG island
IGLV10-54	CpG island
ENSG00000225070	CpG island
ABHD17AP5	CpG island
IGLV5-48	CpG island
PRAMENP	CpG island
IGLV9-49	CpG island
BMS1P20	CpG island
ENSG00000233720	CpG island
ENSG00000236118	CpG island
IGLV6-57	CpG island
TOP3BP1	CpG island
IGLV8-61	CpG island
IGLV1-62	CpG island
VPREB1	CpG island
IGLV1-51	CpG island
ENSG00000228161	CpG island
IGLVIV-66-1	CpG island
ENSG00000225724	CpG island
ENSG00000227710	CpG island
ENSG00000272216	CpG island
ENSG00000249333	CpG island
IGLV1-50	CpG island
IGLVV-66	CpG island
SOCS2P2	CpG island
IGLVI-68	CpG island
ENSG00000197549	chromatin interactions
ENSG00000228050	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000224465	chromatin interactions
ENSG00000233720	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000225741	chromatin interactions
ENSG00000234726	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000211638	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000225070	chromatin interactions
ENSG00000225724	chromatin interactions
ENSG00000253874	chromatin interactions
ENSG00000211653	chromatin interactions
ENSG00000236323	chromatin interactions
ENSG00000254161	chromatin interactions
ENSG00000211642	chromatin interactions
ENSG00000211643	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000236118	chromatin interactions
ENSG00000254308	chromatin interactions
ENSG00000211644	chromatin interactions
ENSG00000211645	chromatin interactions
ENSG00000253126	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000211648	chromatin interactions
ENSG00000253935	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000253242	chromatin interactions
ENSG00000211639	chromatin interactions
ENSG00000253637	chromatin interactions
ENSG00000182502	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000111206	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000223350	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000232515	chromatin interactions
ENSG00000211647	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000211641	chromatin interactions
ENSG00000232603	chromatin interactions
ENSG00000169575	chromatin interactions
ENSG00000100030	chromatin interactions

Extended variants
information (count: 14259 )
Associated
traits (count: 233 )

Variant overlapped rSNPs/rCNVs (count:14259 , 50 per page) page: 1 2 3 4 5 6 7 ... 286

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149456348	chr22:22386467-22386468	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs444597	chr22:22386471-22386472	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11913838	chr22:22386491-22386492	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574811059	chr22:22386504-22386505	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs549662018	chr22:22386537-22386538	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs143028206	chr22:22386548-22386549	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs577374640	chr22:22386561-22386562	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs148209277	chr22:22386586-22386587	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs9610900	chr22:22386617-22386618	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs540970235	chr22:22386632-22386633	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs576101712	chr22:22386634-22386635	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs541400482	chr22:22386640-22386641	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs58406389	chr22:22386677-22386678	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs183600183	chr22:22386683-22386684	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs571975874	chr22:22386736-22386737	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs540948657	chr22:22386764-22386765	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs564078991	chr22:22386771-22386772	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs141212153	chr22:22386776-22386777	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs549758278	chr22:22386826-22386827	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs419893	chr22:22386829-22386830	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs185857656	chr22:22386834-22386835	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs549913072	chr22:22386838-22386839	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs548568750	chr22:22386844-22386845	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs568491121	chr22:22386880-22386881	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs534449673	chr22:22386890-22386891	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs548081607	chr22:22386898-22386899	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs56940115	chr22:22386921-22386922	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552353082	chr22:22386948-22386949	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs540019482	chr22:22387061-22387062	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs556506305	chr22:22387092-22387093	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs575714039	chr22:22387100-22387101	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs562661976	chr22:22387125-22387126	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs190123606	chr22:22387132-22387133	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs75342940	chr22:22387202-22387203	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs439723	chr22:22387239-22387240	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567163052	chr22:22387280-22387281	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73879729	chr22:22387284-22387285	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs432626	chr22:22387300-22387301	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548701481	chr22:22387309-22387310	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs182394996	chr22:22387363-22387364	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs563354757	chr22:22387400-22387401	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs9607509	chr22:22387404-22387405	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542348503	chr22:22387433-22387434	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs111241187	chr22:22387452-22387453	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs538651452	chr22:22387468-22387469	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs186714917	chr22:22387494-22387495	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs558614019	chr22:22387549-22387550	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs547519444	chr22:22387623-22387624	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs147502041	chr22:22387683-22387684	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs533487604	chr22:22387692-22387693	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:233)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Malignant rhabdoid rumor	20824076	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Recurrent pregnancy loss	19789632	CNVD
Ischemic vascular disease	21846869	CNVD
Corpus uteri cancer	20514077	CNVD
Prostate cancer	20514077	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Autism	21865298	CNVD

Chromatin state (count:2832 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22385000-22386600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:22385800-22386600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:22385800-22387200	Weak transcription	Right Atrium	heart
4	chr22:22385800-22389200	Enhancers	Primary B cells from peripheral blood	blood
5	chr22:22386200-22386800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
6	chr22:22386400-22387400	Enhancers	Spleen	Spleen
7	chr22:22386400-22388000	Enhancers	Primary B cells from cord blood	blood
8	chr22:22386400-22391200	Weak transcription	GM12878-XiMat	blood
9	chr22:22386600-22386800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:22386600-22387200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr22:22386800-22387200	Enhancers	Fetal Muscle Trunk	muscle
12	chr22:22386800-22387200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr22:22387200-22389200	Strong transcription	Right Atrium	heart
14	chr22:22387200-22390600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:22387400-22390600	Weak transcription	Spleen	Spleen
16	chr22:22387800-22388400	Bivalent Enhancer	K562	blood
17	chr22:22388000-22388200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:22388000-22390000	Weak transcription	Primary B cells from cord blood	blood
19	chr22:22388200-22388400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:22388200-22388400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr22:22388200-22388600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:22388200-22390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:22388600-22389200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:22389200-22390200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr22:22389200-22390600	Weak transcription	Right Atrium	heart
26	chr22:22389200-22394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:22390000-22393800	Enhancers	Primary B cells from cord blood	blood
28	chr22:22390200-22394600	Enhancers	Primary B cells from peripheral blood	blood
29	chr22:22390400-22393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:22390600-22391000	Strong transcription	Right Atrium	heart
31	chr22:22390600-22391400	Enhancers	Spleen	Spleen
32	chr22:22390600-22391800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:22390800-22393200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:22390800-22393600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:22391000-22391200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:22391000-22393200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:22391000-22397400	Weak transcription	Right Atrium	heart
38	chr22:22391200-22391600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:22391200-22392000	Enhancers	GM12878-XiMat	blood
40	chr22:22391400-22392000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:22391600-22393000	Enhancers	Hela-S3	cervix
42	chr22:22391600-22393600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:22391800-22392000	Enhancers	Right Ventricle	heart
44	chr22:22391800-22392200	Enhancers	Fetal Intestine Small	intestine
45	chr22:22391800-22392400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr22:22391800-22392400	Enhancers	HUVEC	blood vessel
47	chr22:22391800-22393400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:22391800-22393400	Enhancers	K562	blood
49	chr22:22392000-22392400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr22:22392000-22392400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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