Variant report

Variant	nsv914478
Chromosome Location	chr22:22300941-22520067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6102)
CpG islands
(count:2505)
Chromatin interactive
region (count:385)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6102 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
2	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
3	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
5	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
6	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
7	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
9	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
10	ARID3A	chr22:22384968-22385236	K562	blood:	n/a	n/a
11	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
12	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
13	ARID3A	chr22:22477001-22477277	K562	blood:	n/a	n/a
14	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:22302093-22302226	HepG2	liver:	n/a	n/a
16	ARID3A	chr22:22302000-22302519	K562	blood:	n/a	n/a
17	ARID3A	chr22:22510976-22511458	K562	blood:	n/a	n/a
18	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
19	ARID3A	chr22:22355812-22356985	K562	blood:	n/a	n/a
20	ARID3A	chr22:22378057-22378223	K562	blood:	n/a	n/a
21	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
22	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
23	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
24	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
25	ATF1	chr22:22360525-22360873	K562	blood:	n/a	n/a
26	ATF1	chr22:22378052-22378257	K562	blood:	n/a	n/a
27	ATF1	chr22:22356266-22356718	K562	blood:	n/a	n/a
28	ATF1	chr22:22503937-22503949	K562	blood:	n/a	n/a
29	ATF1	chr22:22416087-22416336	K562	blood:	n/a	n/a
30	ATF1	chr22:22369120-22369190	K562	blood:	n/a	n/a
31	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
32	ATF1	chr22:22475770-22475855	K562	blood:	n/a	n/a
33	ATF1	chr22:22372503-22372604	K562	blood:	n/a	n/a
34	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
35	ATF1	chr22:22367936-22368085	K562	blood:	n/a	n/a
36	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
37	ATF1	chr22:22511153-22511471	K562	blood:	n/a	n/a
38	ATF1	chr22:22512634-22512947	K562	blood:	n/a	n/a
39	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
40	ATF2	chr22:22384792-22385975	GM12878	blood:	n/a	n/a
41	ATF2	chr22:22377217-22377748	GM12878	blood:	n/a	n/a
42	ATF2	chr22:22379713-22380215	GM12878	blood:	n/a	n/a
43	ATF2	chr22:22377249-22377905	GM12878	blood:	n/a	n/a
44	ATF2	chr22:22379423-22381676	GM12878	blood:	n/a	n/a
45	ATF2	chr22:22465320-22465759	GM12878	blood:	n/a	n/a
46	ATF2	chr22:22336963-22337512	GM12878	blood:	n/a	n/a
47	ATF2	chr22:22337013-22337406	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr22:22384775-22385741	GM12878	blood:	n/a	n/a
49	ATF2	chr22:22380485-22381465	GM12878	blood:	n/a	n/a
50	ATF2	chr22:22465784-22466187	GM12878	blood:	n/a	n/a

(count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22380839-22380889	BE2_C	brain:	n/a
2	chr22:22465502-22465552	GM12892	blood:	n/a
3	chr22:22337141-22337191	K562	blood:	n/a
4	chr22:22306651-22306701	AG10803	skin:	n/a
5	chr22:22380839-22380889	BE2_C	brain:	n/a
6	chr22:22465502-22465552	GM12892	blood:	n/a
7	chr22:22337141-22337191	K562	blood:	n/a
8	chr22:22306651-22306701	AG10803	skin:	n/a
9	chr22:22337322-22337372	PFSK-1	brain:	n/a
10	chr22:22471216-22471266	MCF10A-Er-Src	breast:	n/a
11	chr22:22472743-22472793	HNPCEpiC	eye:	n/a
12	chr22:22337327-22337377	HRE	kidney:	n/a
13	chr22:22307395-22307445	HIPEpiC	eye:	n/a
14	chr22:22337327-22337377	NB4	blood:	n/a
15	chr22:22337153-22337203	HRE	kidney:	n/a
16	chr22:22306651-22306701	Caco-2	colon:	n/a
17	chr22:22337171-22337221	HMEC	breast:	n/a
18	chr22:22473142-22473192	SK-N-SH_RA	brain:	n/a
19	chr22:22334553-22334603	AG04450	lung:	fetal
20	chr22:22334553-22334603	PrEC	prostate:	n/a
21	chr22:22337178-22337228	HPAEpiC	pulmonary alveolar:	n/a
22	chr22:22307070-22307120	SAEC	small airway:	n/a
23	chr22:22334553-22334603	SKMC	muscle:	n/a
24	chr22:22471930-22471980	RPTEC	kidney:	n/a
25	chr22:22307070-22307120	Caco-2	colon:	n/a
26	chr22:22337327-22337377	GM12891	blood:	n/a
27	chr22:22315643-22315693	SK-N-MC	brain:	n/a
28	chr22:22339538-22339588	BE2_C	brain:	n/a
29	chr22:22337322-22337372	BE2_C	brain:	n/a
30	chr22:22471216-22471266	GM06990	blood:	n/a
31	chr22:22307395-22307445	SK-N-SH_RA	brain:	n/a
32	chr22:22469147-22469197	ovcar-3	ovarian:	n/a
33	chr22:22307395-22307445	T-47D	breast:	n/a
34	chr22:22309769-22309819	GM19239	blood:	n/a
35	chr22:22337178-22337228	AoSMC	blood vessel:	n/a
36	chr22:22469147-22469197	AG04450	lung:	fetal
37	chr22:22471930-22471980	HAEpiC	amniotic membrane:	n/a
38	chr22:22307371-22307421	HIPEpiC	eye:	n/a
39	chr22:22334553-22334603	AG09309	skin:	n/a
40	chr22:22469147-22469197	HAEpiC	amniotic membrane:	n/a
41	chr22:22337327-22337377	HCT-116	colon:	n/a
42	chr22:22315643-22315693	SAEC	small airway:	n/a
43	chr22:22334553-22334603	AG04449	skin:	fetal
44	chr22:22471216-22471266	HepG2	liver:	n/a
45	chr22:22334553-22334603	NHBE	bronchial:	n/a
46	chr22:22307482-22307532	NH-A	brain:	n/a
47	chr22:22471216-22471266	HRE	kidney:	n/a
48	chr22:22337141-22337191	GM12891	blood:	n/a
49	chr22:22307395-22307445	GM12878	blood:	n/a
50	chr22:22472384-22472434	AoSMC	blood vessel:	n/a

(count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr22:22495254..22498542-chr22:22519635..22522268,3	K562	blood:
2	chr22:22141717..22144445-chr22:22332319..22334785,2	K562	blood:
3	chr22:22323709..22326894-chr22:22475374..22478044,3	K562	blood:
4	chr22:22434212..22438844-chr22:22438880..22444803,6	K562	blood:
5	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
6	chr22:22324996..22327450-chr22:22371514..22374171,2	K562	blood:
7	chr22:22371450..22374171-chr22:22385281..22388200,2	K562	blood:
8	chr22:22456630..22459245-chr22:22460162..22461759,2	K562	blood:
9	chr22:22409779..22412216-chr22:22413671..22416086,3	K562	blood:
10	chr22:22339150..22339972-chr22:22457111..22457827,3	K562	blood:
11	chr22:22221788..22224582-chr22:22300522..22304100,3	K562	blood:
12	chr22:22049140..22051212-chr22:22311066..22313228,2	K562	blood:
13	chr22:22431615..22433321-chr22:22897882..22899992,2	K562	blood:
14	chr22:22337017..22338693-chr22:22396578..22398430,2	K562	blood:
15	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
16	chr22:22429953..22432769-chr22:22463306..22465226,2	K562	blood:
17	chr22:22317246..22319582-chr22:22522243..22523920,2	K562	blood:
18	chr22:22301642..22302145-chr22:22776807..22777755,2	K562	blood:
19	chr22:22336863..22339918-chr22:22415321..22421007,6	K562	blood:
20	chr22:22329308..22331029-chr22:22335214..22337114,2	MCF-7	breast:
21	chr22:22316437..22317944-chr22:22319379..22321751,2	MCF-7	breast:
22	chr22:22067733..22069469-chr22:22300683..22303045,3	MCF-7	breast:
23	chr22:22366731..22370036-chr22:22370345..22377647,6	K562	blood:
24	chr22:22505481..22507626-chr22:22554412..22557003,2	K562	blood:
25	chr22:22361366..22363975-chr22:22363999..22367309,3	K562	blood:
26	chr22:22302307..22302808-chr4:140762929..140763505,2	MCF-7	breast:
27	chr22:22315346..22316986-chr22:22335454..22337352,3	MCF-7	breast:
28	chr22:22329044..22332346-chr22:22335808..22338483,3	MCF-7	breast:
29	chr22:22338264..22341028-chr22:22377177..22379400,2	K562	blood:
30	chr22:22440380..22442867-chr22:22443894..22445893,2	K562	blood:
31	chr22:22465010..22465979-chr22:22549552..22550401,2	K562	blood:
32	chr22:22056044..22058146-chr22:22337310..22338854,2	K562	blood:
33	chr22:22399536..22401946-chr22:22423237..22426311,3	K562	blood:
34	chr22:22336005..22338441-chr22:22371712..22374191,2	K562	blood:
35	chr22:22325394..22327704-chr22:22474790..22477221,2	K562	blood:
36	chr22:22353488..22356320-chr22:22376115..22378652,2	K562	blood:
37	chr22:22362932..22365421-chr22:22377473..22379337,2	K562	blood:
38	chr22:22015676..22017978-chr22:22303779..22306015,2	K562	blood:
39	chr22:22414930..22415642-chr22:22457135..22457820,2	K562	blood:
40	chr22:22428705..22431367-chr22:22451368..22453204,2	K562	blood:
41	chr22:22086449..22088631-chr22:22421074..22423935,2	K562	blood:
42	chr22:22326670..22328362-chr22:22335678..22338446,2	MCF-7	breast:
43	chr22:22392130..22394471-chr22:22421822..22423807,2	K562	blood:
44	chr22:22217878..22219529-chr22:22513377..22516002,2	K562	blood:
45	chr22:22515581..22520266-chr22:22520524..22523986,6	K562	blood:
46	chr22:22442921..22444878-chr22:22445131..22446988,2	K562	blood:
47	chr22:22420899..22422887-chr22:22437633..22440453,2	K562	blood:
48	chr22:22362553..22365745-chr22:22374633..22376942,3	K562	blood:
49	chr22:22377194..22378889-chr22:22380895..22382410,2	K562	blood:
50	chr22:22402535..22405138-chr22:22415755..22417580,2	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPREB1-2	chr22:22390743-22390893	ENSG00000225070.1
2	lnc-VPREB1-16	chr22:22440972-22441017	NONHSAT083742
3	lnc-TOP3B-1	chr22:22390346-22390668	NONHSAT083730
4	lnc-VPREB1-2	chr22:22393836-22394463	ENSG00000225070.1
5	lnc-VPREB1-16	chr22:22441127-22441521	NONHSAT083742
6	lnc-VPREB1-25	chr22:22380648-22380991	NONHSAT083731
7	lnc-VPREB1-15	chr22:22457629-22458457	NONHSAT083743
8	lnc-VPREB1-11	chr22:22511775-22512024	NONHSAT083748
9	lnc-VPREB1-23	chr22:22393042-22393087	NONHSAT083734
10	lnc-VPREB1-19	chr22:22424636-22424681	NONHSAT083739
11	lnc-TOP3B-1	chr22:22380620-22380720	NONHSAT083730
12	lnc-VPREB1-18	chr22:22429777-22430077	NONHSAT083740
13	lnc-VPREB1-10	chr22:22516777-22517099	NONHSAT083749
14	lnc-VPREB1-13	chr22:22510010-22510452	NONHSAT083746
15	lnc-VPREB1-23	chr22:22393197-22393525	NONHSAT083734
16	lnc-VPREB1-13	chr22:22478465-22478576	NONHSAT083746
17	lnc-VPREB1-24	chr22:22387143-22387194	NONHSAT083732
18	lnc-VPREB1-15	chr22:22458835-22459267	NONHSAT083743
19	lnc-VPREB1-24	chr22:22387300-22387592	NONHSAT083732
20	lnc-VPREB1-25	chr22:22380474-22380519	NONHSAT083731
21	lnc-VPREB1-20	chr22:22415489-22415536	NONHSAT083738
22	lnc-TOP3B-1	chr22:22380099-22380527	NONHSAT083730
23	lnc-VPREB1-20	chr22:22415658-22415950	NONHSAT083738
24	lnc-VPREB1-17	chr22:22434336-22434673	NONHSAT083741
25	lnc-VPREB1-19	chr22:22424805-22425118	NONHSAT083739
26	lnc-VPREB1-21	chr22:22412845-22413304	NONHSAT083737
27	lnc-VPREB1-13	chr22:22510185-22510335	NONHSAT083747
28	lnc-VPREB1-22	chr22:22398016-22398340	NONHSAT083735
29	lnc-VPREB1-13	chr22:22509975-22510104	NONHSAT083747
30	lnc-VPREB1-17	chr22:22434180-22434225	NONHSAT083741

No data

Variant related genes	Relation type
TOP3B	TF binding region
ENSG00000225070	TF binding region
ABHD17AP5	TF binding region
PRAMENP	TF binding region
IGLV1-62	TF binding region
IGLVIV-66-1	TF binding region
ENSG00000249333	TF binding region
IGLVIV-64	TF binding region
ENSG00000225741	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
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
IGLVI-68	TF binding region
TOP3B	CpG island
ENSG00000225070	CpG island
ABHD17AP5	CpG island
PRAMENP	CpG island
IGLV1-62	CpG island
IGLVIV-66-1	CpG island
ENSG00000249333	CpG island
IGLVIV-64	CpG island
ENSG00000225741	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
IGLV4-69	CpG island
ENSG00000233720	CpG island
ENSG00000236118	CpG island
IGLV8-61	CpG island
ENSG00000228161	CpG island
ENSG00000227710	CpG island
IGLVV-66	CpG island
IGLVI-68	CpG island
ENSG00000211648	chromatin interactions
ENSG00000224465	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000253874	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000211638	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000233720	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000182502	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000254308	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000254161	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000211639	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000211641	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000223461	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000236118	chromatin interactions
ENSG00000253637	chromatin interactions
ENSG00000253242	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000211644	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000225741	chromatin interactions
ENSG00000211642	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000225070	chromatin interactions

Extended variants
information (count: 9565 )
Associated
traits (count: 220 )

Variant overlapped rSNPs/rCNVs (count:9565 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1005579	chr22:22300941-22300942	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368155314	chr22:22300976-22300977	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs149580717	chr22:22300982-22300983	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs530977317	chr22:22301002-22301003	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs533696761	chr22:22301028-22301029	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs553663561	chr22:22301031-22301032	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs372314286	chr22:22301045-22301046	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs550059358	chr22:22301059-22301060	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs576695600	chr22:22301123-22301124	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs538682875	chr22:22301127-22301128	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs558894699	chr22:22301136-22301137	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs7291919	chr22:22301148-22301149	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7293040	chr22:22301228-22301229	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77955358	chr22:22301254-22301255	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
15	rs575102398	chr22:22301297-22301298	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs369629225	chr22:22301323-22301324	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs540803781	chr22:22301334-22301335	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs34018252	chr22:22301336-22301337	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs372635288	chr22:22301386-22301387	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs532826648	chr22:22301387-22301388	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs551929831	chr22:22301396-22301397	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs531876564	chr22:22301409-22301410	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs531163194	chr22:22301426-22301427	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs147266133	chr22:22301428-22301429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs567780512	chr22:22301451-22301452	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs113363555	chr22:22301455-22301456	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	mRNA abundance
27	rs547165361	chr22:22301459-22301460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs199941550	chr22:22301481-22301482	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs570447463	chr22:22301485-22301486	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs539710440	chr22:22301496-22301497	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs148832609	chr22:22301508-22301509	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs386819870	chr22:22301513-22301514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs199725385	chr22:22301515-22301516	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs558727310	chr22:22301553-22301554	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs575597338	chr22:22301585-22301586	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs537818103	chr22:22301602-22301603	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs140861335	chr22:22301605-22301606	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs112728522	chr22:22301606-22301607	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs117947940	chr22:22301607-22301608	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs534399122	chr22:22301622-22301623	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs78258781	chr22:22301628-22301629	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs577515981	chr22:22301629-22301630	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs145235026	chr22:22301669-22301670	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs12152140	chr22:22301673-22301674	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs531350789	chr22:22301675-22301676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs541394193	chr22:22301705-22301706	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs561472172	chr22:22301717-22301718	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs527367780	chr22:22301790-22301791	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs79391696	chr22:22301795-22301796	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs36045552	chr22:22301871-22301872	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:220)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Malignant rhabdoid rumor	20824076	CNVD

Chromatin state (count:2946 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22293000-22301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:22293000-22306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:22293000-22306400	Weak transcription	Small Intestine	intestine
4	chr22:22293200-22301000	Genic enhancers	Lung	lung
5	chr22:22293200-22301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:22293200-22301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:22293200-22301600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:22293200-22301800	Genic enhancers	Spleen	Spleen
9	chr22:22293200-22305400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr22:22293200-22306000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:22293400-22302600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr22:22293600-22301600	Strong transcription	Fetal Intestine Small	intestine
13	chr22:22294600-22301000	Strong transcription	Brain Germinal Matrix	brain
14	chr22:22295000-22301000	Strong transcription	Fetal Intestine Large	intestine
15	chr22:22296200-22301000	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr22:22297200-22301400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:22297200-22302400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr22:22297200-22306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:22297200-22306000	Weak transcription	GM12878-XiMat	blood
20	chr22:22297400-22301200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:22297600-22301000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:22297600-22301200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:22297800-22301200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:22297800-22304400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:22298000-22301000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:22298200-22301000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:22298200-22301000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:22298200-22301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:22298200-22301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:22298200-22301400	Weak transcription	Stomach Mucosa	stomach
31	chr22:22298400-22301000	Strong transcription	Brain Anterior Caudate	brain
32	chr22:22298800-22301200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr22:22298800-22301200	Weak transcription	Fetal Heart	heart
34	chr22:22299000-22301200	Strong transcription	NHLF	lung
35	chr22:22299200-22301200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:22299400-22301000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:22299600-22301200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr22:22299600-22301400	Weak transcription	NHDF-Ad	bronchial
39	chr22:22299600-22303800	Weak transcription	Primary B cells from cord blood	blood
40	chr22:22299600-22306000	Weak transcription	Hela-S3	cervix
41	chr22:22299800-22301200	Weak transcription	NH-A	brain
42	chr22:22299800-22301400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:22299800-22301800	Enhancers	Psoas Muscle	Psoas
44	chr22:22299800-22306000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:22300000-22301000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:22300000-22301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:22300000-22301600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:22300000-22301800	Weak transcription	Fetal Kidney	kidney
49	chr22:22300000-22302400	Weak transcription	Fetal Brain Male	brain
50	chr22:22300000-22305200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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