Variant report

Variant	esv2756316
Chromosome Location	chr22:22275642-22570417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8998)
CpG islands
(count:3362)
Chromatin interactive
region (count:536)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:8998 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22549750-22550101	K562	blood:	n/a	n/a
2	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
3	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
4	ARID3A	chr22:22302000-22302519	K562	blood:	n/a	n/a
5	ARID3A	chr22:22302093-22302226	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:22384968-22385236	K562	blood:	n/a	n/a
7	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
8	ARID3A	chr22:22535924-22535987	HepG2	liver:	n/a	n/a
9	ARID3A	chr22:22564820-22564910	K562	blood:	n/a	n/a
10	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
11	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
13	ARID3A	chr22:22477001-22477277	K562	blood:	n/a	n/a
14	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
16	ARID3A	chr22:22560720-22560804	HepG2	liver:	n/a	n/a
17	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
18	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
19	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
20	ARID3A	chr22:22378057-22378223	K562	blood:	n/a	n/a
21	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
22	ARID3A	chr22:22355812-22356985	K562	blood:	n/a	n/a
23	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
24	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
25	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
26	ARID3A	chr22:22510976-22511458	K562	blood:	n/a	n/a
27	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
28	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
29	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
30	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
31	ATF1	chr22:22475770-22475855	K562	blood:	n/a	n/a
32	ATF1	chr22:22360525-22360873	K562	blood:	n/a	n/a
33	ATF1	chr22:22369120-22369190	K562	blood:	n/a	n/a
34	ATF1	chr22:22378052-22378257	K562	blood:	n/a	n/a
35	ATF1	chr22:22416087-22416336	K562	blood:	n/a	n/a
36	ATF1	chr22:22503937-22503949	K562	blood:	n/a	n/a
37	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
38	ATF1	chr22:22511153-22511471	K562	blood:	n/a	n/a
39	ATF1	chr22:22372503-22372604	K562	blood:	n/a	n/a
40	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
41	ATF1	chr22:22564831-22565179	K562	blood:	n/a	n/a
42	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
43	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
44	ATF1	chr22:22356266-22356718	K562	blood:	n/a	n/a
45	ATF1	chr22:22367936-22368085	K562	blood:	n/a	n/a
46	ATF1	chr22:22512634-22512947	K562	blood:	n/a	n/a
47	ATF1	chr22:22522930-22523217	K562	blood:	n/a	n/a
48	ATF2	chr22:22522066-22522590	GM12878	blood:	n/a	n/a
49	ATF2	chr22:22384792-22385975	GM12878	blood:	n/a	n/a
50	ATF2	chr22:22377249-22377905	GM12878	blood:	n/a	n/a

(count:3362 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22293118-22293168	BJ	skin:	n/a
2	chr22:22471930-22471980	NH-A	brain:	n/a
3	chr22:22293118-22293168	HCM	heart:	n/a
4	chr22:22337327-22337377	ovcar-3	ovarian:	n/a
5	chr22:22311698-22311748	IMR90	lung:	fetal
6	chr22:22307395-22307445	GM12892	blood:	n/a
7	chr22:22469457-22469507	HRE	kidney:	n/a
8	chr22:22293118-22293168	BJ	skin:	n/a
9	chr22:22471930-22471980	NH-A	brain:	n/a
10	chr22:22293118-22293168	HCM	heart:	n/a
11	chr22:22337327-22337377	ovcar-3	ovarian:	n/a
12	chr22:22311698-22311748	IMR90	lung:	fetal
13	chr22:22307395-22307445	GM12892	blood:	n/a
14	chr22:22469457-22469507	HRE	kidney:	n/a
15	chr22:22380100-22380150	ECC-1	luminal epithelium:	n/a
16	chr22:22307371-22307421	HCT-116	colon:	n/a
17	chr22:22288473-22288523	Caco-2	colon:	n/a
18	chr22:22337369-22337419	IMR90	lung:	fetal
19	chr22:22290866-22290916	HPAEpiC	pulmonary alveolar:	n/a
20	chr22:22307573-22307623	A549	lung:	n/a
21	chr22:22339538-22339588	SK-N-MC	brain:	n/a
22	chr22:22292638-22292688	GM19239	blood:	n/a
23	chr22:22307371-22307421	NHBE	bronchial:	n/a
24	chr22:22293118-22293168	ProgFib	skin:	n/a
25	chr22:22339538-22339588	ECC-1	luminal epithelium:	n/a
26	chr22:22337171-22337221	BE2_C	brain:	n/a
27	chr22:22292241-22292291	HepG2	liver:	n/a
28	chr22:22473142-22473192	AG04449	skin:	fetal
29	chr22:22337153-22337203	MCF-7	breast:	n/a
30	chr22:22472384-22472434	HRE	kidney:	n/a
31	chr22:22471216-22471266	HEEpiC	esophagus:	n/a
32	chr22:22307573-22307623	ECC-1	luminal epithelium:	n/a
33	chr22:22337178-22337228	HRE	kidney:	n/a
34	chr22:22337178-22337228	LNCaP	prostate:	n/a
35	chr22:22293118-22293168	MCF-7	breast:	n/a
36	chr22:22337322-22337372	MCF-7	breast:	n/a
37	chr22:22288473-22288523	HMEC	breast:	n/a
38	chr22:22306263-22306313	Hepatocyte	liver:	n/a
39	chr22:22334553-22334603	HNPCEpiC	eye:	n/a
40	chr22:22293118-22293168	HCT-116	colon:	n/a
41	chr22:22472743-22472793	GM12892	blood:	n/a
42	chr22:22472384-22472434	K562	blood:	n/a
43	chr22:22337322-22337372	H1-hESC	embryonic stem cell:	embryo
44	chr22:22472384-22472434	U87	brain:	n/a
45	chr22:22471216-22471266	RPTEC	kidney:	n/a
46	chr22:22307378-22307428	PFSK-1	brain:	n/a
47	chr22:22469873-22469923	NB4	blood:	n/a
48	chr22:22307482-22307532	IMR90	lung:	fetal
49	chr22:22306651-22306701	ECC-1	luminal epithelium:	n/a
50	chr22:22465502-22465552	HCT-116	colon:	n/a

(count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr22:22302307..22302808-chr4:140762929..140763505,2	MCF-7	breast:
2	chr22:22505481..22507626-chr22:22554412..22557003,2	K562	blood:
3	chr22:22454964..22458448-chr22:22464006..22468093,4	K562	blood:
4	chr22:22503861..22506116-chr22:22521310..22523381,2	K562	blood:
5	chr22:22481763..22483444-chr22:22493310..22495703,2	K562	blood:
6	chr22:22540069..22542398-chr22:22548801..22550935,2	K562	blood:
7	chr22:22460350..22462658-chr22:22476870..22479125,2	K562	blood:
8	chr22:22566681..22568438-chr22:22596425..22598938,2	K562	blood:
9	chr22:22018767..22021764-chr22:22305458..22307396,2	K562	blood:
10	chr22:21982930..21985503-chr22:22298209..22299787,2	K562	blood:
11	chr22:22442185..22444252-chr22:22452104..22454280,2	K562	blood:
12	chr22:21996404..21998024-chr22:22293546..22295195,2	K562	blood:
13	chr22:22221788..22224582-chr22:22300522..22304100,3	K562	blood:
14	chr22:22315227..22317746-chr22:22319787..22322237,2	MCF-7	breast:
15	chr22:22554223..22554749-chr22:22562148..22562818,2	K562	blood:
16	chr22:22452413..22458564-chr22:22459740..22463998,10	K562	blood:
17	chr22:22522165..22523975-chr22:22538442..22540411,2	K562	blood:
18	chr22:22465081..22465624-chr22:22511062..22511684,2	MCF-7	breast:
19	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
20	chr22:22221148..22221961-chr22:22292763..22293453,2	K562	blood:
21	chr22:22400946..22402797-chr22:22413673..22416089,2	MCF-7	breast:
22	chr22:22356806..22358969-chr22:22360962..22362810,2	K562	blood:
23	chr22:22428129..22431036-chr22:22436168..22437943,2	K562	blood:
24	chr22:22291063..22292706-chr22:22313114..22314633,2	K562	blood:
25	chr22:22536360..22539050-chr22:22549393..22551343,2	K562	blood:
26	chr22:22465081..22465624-chr22:22511062..22511684,2	MCF-7	breast:
27	chr22:22211840..22214616-chr22:22450108..22452392,2	K562	blood:
28	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
29	chr22:22068976..22070805-chr22:22338625..22340951,2	K562	blood:
30	chr22:22509812..22513706-chr22:22514979..22519808,10	K562	blood:
31	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
32	chr22:22292249..22292768-chr6:36853269..36853777,2	K562	blood:
33	chr22:22504904..22512201-chr22:22531462..22537596,8	K562	blood:
34	chr22:22561948..22562672-chr22:22817389..22817970,2	K562	blood:
35	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
36	chr22:22394909..22397470-chr22:22439151..22441826,2	MCF-7	breast:
37	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
38	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
39	chr22:22215700..22218556-chr22:22295554..22298706,3	K562	blood:
40	chr22:22337436..22340335-chr22:22341477..22343110,2	MCF-7	breast:
41	chr22:22561298..22563780-chr22:22564215..22567147,2	MCF-7	breast:
42	chr22:22292568..22294613-chr22:22327761..22330729,3	K562	blood:
43	chr22:22066903..22068087-chr22:22326739..22327340,4	K562	blood:
44	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
45	chr22:22131249..22133599-chr22:22302494..22304586,2	K562	blood:
46	chr22:22558145..22560692-chr22:22571278..22572782,2	K562	blood:
47	chr22:22431615..22433321-chr22:22897882..22899992,2	K562	blood:
48	chr22:22565829..22568635-chr22:22570858..22574348,3	K562	blood:
49	chr22:22028092..22030504-chr22:22298642..22300750,2	K562	blood:
50	chr22:22083663..22085506-chr22:22275492..22277482,2	K562	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOP3B-1	chr22:22390346-22390668	NONHSAT083730
2	lnc-VPREB1-16	chr22:22441127-22441521	NONHSAT083742
3	lnc-TOP3B-1	chr22:22380620-22380720	NONHSAT083730
4	lnc-VPREB1-19	chr22:22424805-22425118	NONHSAT083739
5	lnc-VPREB1-9	chr22:22522682-22523027	NONHSAT083752
6	lnc-VPREB1-6	chr22:22536972-22537275	NONHSAT083755
7	lnc-VPREB1-16	chr22:22440972-22441017	NONHSAT083742
8	lnc-VPREB1-20	chr22:22415489-22415536	NONHSAT083738
9	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
10	lnc-TOP3B-1	chr22:22380099-22380527	NONHSAT083730
11	lnc-VPREB1-17	chr22:22434336-22434673	NONHSAT083741
12	lnc-VPREB1-8	chr22:22533618-22533867	NONHSAT083754
13	lnc-VPREB1-19	chr22:22424636-22424681	NONHSAT083739
14	lnc-VPREB1-18	chr22:22429777-22430077	NONHSAT083740
15	lnc-VPREB1-20	chr22:22415658-22415950	NONHSAT083738
16	lnc-VPREB1-25	chr22:22380474-22380519	NONHSAT083731
17	lnc-VPREB1-22	chr22:22398016-22398340	NONHSAT083735
18	lnc-VPREB1-4	chr22:22553115-22553411	NONHSAT083759
19	lnc-VPREB1-24	chr22:22387143-22387194	NONHSAT083732
20	lnc-VPREB1-25	chr22:22380648-22380991	NONHSAT083731
21	lnc-PPIL2-1	chr22:22295474-22297799	ENSG00000224086.3
22	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3
23	lnc-VPREB1-23	chr22:22393042-22393087	NONHSAT083734
24	lnc-VPREB1-13	chr22:22510010-22510452	NONHSAT083746
25	lnc-VPREB1-15	chr22:22457629-22458457	NONHSAT083743
26	lnc-VPREB1-17	chr22:22434180-22434225	NONHSAT083741
27	lnc-VPREB1-24	chr22:22387300-22387592	NONHSAT083732
28	lnc-VPREB1-15	chr22:22458835-22459267	NONHSAT083743
29	lnc-VPREB1-2	chr22:22393836-22394463	ENSG00000225070.1
30	lnc-VPREB1-4	chr22:22552960-22553004	NONHSAT083759
31	lnc-VPREB1-23	chr22:22393197-22393525	NONHSAT083734
32	lnc-TOP3B-4	chr22:22525369-22525942	NONHSAT083753
33	lnc-VPREB1-10	chr22:22516777-22517099	NONHSAT083749
34	lnc-VPREB1-21	chr22:22412845-22413304	NONHSAT083737
35	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725
36	lnc-VPREB1-5	chr22:22540331-22541009	NONHSAT083756
37	lnc-VPREB1-13	chr22:22478465-22478576	NONHSAT083746
38	lnc-VPREB1-13	chr22:22510185-22510335	NONHSAT083747
39	lnc-TOP3B-2	chr22:22291334-22291588	NONHSAT083723
40	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
41	lnc-PPIL2-1	chr22:22292665-22292934	NONHSAT083725
42	lnc-VPREB1-2	chr22:22390743-22390893	ENSG00000225070.1
43	lnc-VPREB1-11	chr22:22511775-22512024	NONHSAT083748
44	lnc-VPREB1-13	chr22:22509975-22510104	NONHSAT083747

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PPM1F	hsa-miR-186-5p	chr22:22276653-22276674

Variant related genes	Relation type
IGLVIV-59	TF binding region
IGLVIV-53	TF binding region
TOP3B	TF binding region
IGLV10-54	TF binding region
ENSG00000225070	TF binding region
ABHD17AP5	TF binding region
PRAMENP	TF binding region
IGLV6-57	TF binding region
IGLV1-62	TF binding region
IGLVIV-66-1	TF binding region
ENSG00000249333	TF binding region
IGLVIV-64	TF binding region
ENSG00000224086	TF binding region
BMP6P1	TF binding region
ENSG00000225741	TF binding region
IGLV11-55	TF binding region
IGLV10-67	TF binding region
PPM1F	TF binding region
IGLVI-70	TF binding region
IGLVIV-65	TF binding region
IGLVI-63	TF binding region
IGLV4-60	TF binding region
IGLVV-58	TF binding region
IGLVI-56	TF binding region
IGLV4-69	TF binding region
ENSG00000233720	TF binding region
ENSG00000236118	TF binding region
IGLV8-61	TF binding region
ENSG00000228161	TF binding region
ENSG00000227710	TF binding region
IGLVV-66	TF binding region
SOCS2P2	TF binding region
IGLVI-68	TF binding region
IGLVIV-59	CpG island
IGLVIV-53	CpG island
TOP3B	CpG island
IGLV10-54	CpG island
ENSG00000225070	CpG island
ABHD17AP5	CpG island
PRAMENP	CpG island
IGLV6-57	CpG island
IGLV1-62	CpG island
IGLVIV-66-1	CpG island
ENSG00000249333	CpG island
IGLVIV-64	CpG island
ENSG00000224086	CpG island
BMP6P1	CpG island
ENSG00000225741	CpG island
IGLV11-55	CpG island
IGLV10-67	CpG island
PPM1F	CpG island
IGLVI-70	CpG island
IGLVIV-65	CpG island
IGLVI-63	CpG island
IGLV4-60	CpG island
IGLVV-58	CpG island
IGLVI-56	CpG island
IGLV4-69	CpG island
ENSG00000233720	CpG island
ENSG00000236118	CpG island
IGLV8-61	CpG island
ENSG00000228161	CpG island
ENSG00000227710	CpG island
IGLVV-66	CpG island
SOCS2P2	CpG island
IGLVI-68	CpG island
ENSG00000228050	chromatin interactions
ENSG00000211639	chromatin interactions
ENSG00000223350	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000254161	chromatin interactions
ENSG00000253242	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000253935	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000224465	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000253637	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000211641	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000236118	chromatin interactions
ENSG00000111206	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000236323	chromatin interactions
ENSG00000211642	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000211638	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000234726	chromatin interactions
ENSG00000232603	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000253874	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000211653	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000225070	chromatin interactions
ENSG00000182502	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000253126	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000211644	chromatin interactions
ENSG00000233720	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000223461	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000254308	chromatin interactions
ENSG00000211648	chromatin interactions
ENSG00000225741	chromatin interactions

Extended variants
information (count: 13118 )
Associated
traits (count: 222 )

Variant overlapped rSNPs/rCNVs (count:13118 , 50 per page) page: 1 2 3 4 5 6 7 ... 263

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11089815	chr22:22275642-22275643	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571656599	chr22:22275676-22275677	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537060643	chr22:22275710-22275711	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370800772	chr22:22275718-22275719	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs71314801	chr22:22275723-22275724	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192918286	chr22:22275733-22275734	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574072365	chr22:22275755-22275756	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374448827	chr22:22275770-22275771	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542680403	chr22:22275803-22275804	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553188443	chr22:22275810-22275811	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573080936	chr22:22275812-22275813	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545343158	chr22:22275863-22275864	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565245424	chr22:22275871-22275872	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569929502	chr22:22275876-22275877	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543884657	chr22:22275910-22275911	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560904731	chr22:22275948-22275949	Enhancers Strong transcription Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529785442	chr22:22276013-22276014	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111933193	chr22:22276091-22276092	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs533997435	chr22:22276140-22276141	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs5750229	chr22:22276157-22276158	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs143485787	chr22:22276171-22276172	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532338372	chr22:22276194-22276195	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs9610611	chr22:22276228-22276229	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552362256	chr22:22276251-22276252	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189515536	chr22:22276288-22276289	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368768084	chr22:22276289-22276290	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550717765	chr22:22276294-22276295	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371306157	chr22:22276349-22276350	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535729400	chr22:22276356-22276357	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553049606	chr22:22276393-22276394	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572959209	chr22:22276394-22276395	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180733561	chr22:22276401-22276402	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555145449	chr22:22276414-22276415	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11539569	chr22:22276510-22276511	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565679279	chr22:22276540-22276541	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569348963	chr22:22276614-22276615	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34891466	chr22:22276629-22276630	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184987661	chr22:22276713-22276714	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189447810	chr22:22276750-22276751	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374813206	chr22:22276751-22276752	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5756078	chr22:22276758-22276759	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80132519	chr22:22276760-22276761	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534363586	chr22:22276782-22276783	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575861181	chr22:22276801-22276802	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544872767	chr22:22276804-22276805	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560749597	chr22:22276815-22276816	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574480923	chr22:22276839-22276840	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540369545	chr22:22276872-22276873	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6000137	chr22:22276883-22276884	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116204499	chr22:22276892-22276893	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:222)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Malignant rhabdoid rumor	20824076	CNVD
Glioma	20126413	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:4849 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
2	chr22:22270000-22275800	Weak transcription	Fetal Brain Male	brain
3	chr22:22270600-22276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:22271800-22281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:22272000-22279600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:22272000-22282400	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:22272200-22275800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr22:22272200-22276800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:22272200-22277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:22272200-22279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:22272200-22279600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:22272200-22279600	Weak transcription	Liver	Liver
13	chr22:22272200-22281400	Weak transcription	Brain Angular Gyrus	brain
14	chr22:22272200-22284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:22272400-22275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:22272400-22276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:22272400-22276800	Weak transcription	Left Ventricle	heart
18	chr22:22272400-22279600	Weak transcription	K562	blood
19	chr22:22272400-22282800	Weak transcription	HSMM	muscle
20	chr22:22272400-22283200	Weak transcription	Brain Substantia Nigra	brain
21	chr22:22272400-22283200	Weak transcription	HSMMtube	muscle
22	chr22:22272600-22279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:22272600-22279800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:22272600-22280000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:22272600-22283800	Weak transcription	HepG2	liver
26	chr22:22272800-22283000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:22273000-22280200	Weak transcription	NHEK	skin
28	chr22:22273000-22288400	Strong transcription	Fetal Muscle Leg	muscle
29	chr22:22273000-22291000	Strong transcription	Fetal Stomach	stomach
30	chr22:22273200-22276200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:22273200-22276800	Weak transcription	Fetal Intestine Large	intestine
32	chr22:22273200-22283000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:22273200-22283000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:22273200-22283400	Weak transcription	Thymus	Thymus
35	chr22:22273200-22291000	Weak transcription	Psoas Muscle	Psoas
36	chr22:22273400-22276000	Weak transcription	NH-A	brain
37	chr22:22273400-22276200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:22273400-22277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:22273400-22277800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:22273400-22278600	Strong transcription	Placenta	Placenta
41	chr22:22273400-22280800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:22273400-22283600	Weak transcription	Dnd41	blood
43	chr22:22273400-22284600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:22273400-22289400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr22:22273400-22289400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:22273400-22289600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:22273400-22289600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:22273400-22290200	Strong transcription	Adipose Nuclei	Adipose
49	chr22:22273600-22275800	Weak transcription	HUVEC	blood vessel
50	chr22:22273600-22279600	Weak transcription	Duodenum Mucosa	Duodenum

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