Variant report

Variant	nsv887852
Chromosome Location	chr7:26236933-26244365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1461)
CpG islands
(count:1465)
Chromatin interactive
region (count:143)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1461 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:26239009-26240013	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:26237252-26237427	K562	blood:	n/a	n/a
3	ARID3A	chr7:26237645-26240934	K562	blood:	n/a	n/a
4	ARID3A	chr7:26237364-26238112	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:26240229-26241396	HepG2	liver:	n/a	chr7:26241058-26241066
6	ATF1	chr7:26240214-26241459	K562	blood:	n/a	chr7:26240423-26240437
7	ATF2	chr7:26239389-26241173	GM12878	blood:	n/a	chr7:26240423-26240437
8	ATF2	chr7:26236836-26237454	GM12878	blood:	n/a	n/a
9	ATF2	chr7:26236394-26237018	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:26237016-26237532	GM12878	blood:	n/a	n/a
11	ATF2	chr7:26238593-26241105	H1-hESC	embryonic stem cell:	n/a	chr7:26240423-26240437
12	ATF2	chr7:26239235-26241418	GM12878	blood:	n/a	chr7:26240423-26240437
13	ATF2	chr7:26237987-26238603	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:26238799-26241193	H1-hESC	embryonic stem cell:	n/a	chr7:26240423-26240437
15	ATF2	chr7:26236389-26237131	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr7:26240677-26241174	A549	lung:	n/a	n/a
17	ATF3	chr7:26239741-26240497	A549	lung:	n/a	n/a
18	ATF3	chr7:26240144-26240758	K562	blood:	n/a	n/a
19	ATF3	chr7:26239344-26240799	A549	lung:	n/a	n/a
20	BACH1	chr7:26239432-26240344	K562	blood:	n/a	n/a
21	BACH1	chr7:26240239-26242359	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr7:26240808-26241385	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:26240093-26240458	GM12878	blood:	n/a	n/a
24	BCL3	chr7:26240019-26240600	K562	blood:	n/a	n/a
25	BCL3	chr7:26240120-26240494	GM12878	blood:	n/a	n/a
26	BCL3	chr7:26237613-26238833	A549	lung:	n/a	n/a
27	BCL3	chr7:26238938-26240758	A549	lung:	n/a	n/a
28	BCL3	chr7:26239335-26239748	A549	lung:	n/a	n/a
29	BCL3	chr7:26240870-26241538	GM12878	blood:	n/a	chr7:26241388-26241397
30	BCL3	chr7:26239873-26241142	A549	lung:	n/a	n/a
31	BCLAF1	chr7:26240786-26241613	GM12878	blood:	n/a	chr7:26241388-26241397
32	BCLAF1	chr7:26239392-26240604	GM12878	blood:	n/a	n/a
33	BCLAF1	chr7:26238854-26240657	GM12878	blood:	n/a	n/a
34	BCLAF1	chr7:26240661-26241591	GM12878	blood:	n/a	chr7:26241388-26241397
35	BCLAF1	chr7:26238925-26241630	K562	blood:	n/a	chr7:26241388-26241397
36	BCLAF1	chr7:26239878-26240489	K562	blood:	n/a	n/a
37	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
38	BHLHE40	chr7:26239673-26242127	HepG2	liver:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
39	BHLHE40	chr7:26236629-26237507	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:26238388-26238394	GM12878	blood:	n/a	n/a
41	BHLHE40	chr7:26239612-26242521	GM12878	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
42	BHLHE40	chr7:26239435-26242156	K562	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
43	BRCA1	chr7:26242065-26242856	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr7:26240123-26241543	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr7:26239566-26239758	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr7:26241350-26241616	GM12878	blood:	n/a	n/a
47	BRCA1	chr7:26240844-26241037	HepG2	liver:	n/a	n/a
48	BRCA1	chr7:26238909-26239353	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr7:26240886-26241138	GM12878	blood:	n/a	n/a
50	BRCA1	chr7:26241407-26241502	HepG2	liver:	n/a	n/a

(count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26239440-26239490	GM19239	blood:	n/a
2	chr7:26239440-26239490	GM19239	blood:	n/a
3	chr7:26241406-26241456	MCF-7	breast:	n/a
4	chr7:26240903-26240953	BE2_C	brain:	n/a
5	chr7:26240087-26240137	Jurkat	blood:	n/a
6	chr7:26241406-26241456	HMEC	breast:	n/a
7	chr7:26240939-26240989	NHBE	bronchial:	n/a
8	chr7:26244131-26244181	ovcar-3	ovarian:	n/a
9	chr7:26240458-26240508	HCT-116	colon:	n/a
10	chr7:26241406-26241456	Caco-2	colon:	n/a
11	chr7:26241406-26241456	HCPEpiC	choroid plexus:	n/a
12	chr7:26240939-26240989	SAEC	small airway:	n/a
13	chr7:26239239-26239289	HEK293	kidney:	embryo
14	chr7:26239563-26239613	HRE	kidney:	n/a
15	chr7:26241064-26241114	BJ	skin:	n/a
16	chr7:26241504-26241554	PANC-1	pancreas:	n/a
17	chr7:26239239-26239289	HRCEpiC	kidney:	n/a
18	chr7:26240523-26240573	AG04449	skin:	fetal
19	chr7:26240458-26240508	SKMC	muscle:	n/a
20	chr7:26241126-26241176	AG04450	lung:	fetal
21	chr7:26240574-26240624	HEK293	kidney:	embryo
22	chr7:26242932-26242982	AG10803	skin:	n/a
23	chr7:26240574-26240624	K562	blood:	n/a
24	chr7:26240574-26240624	HRE	kidney:	n/a
25	chr7:26239563-26239613	NHDF-neo	bronchial:	n/a
26	chr7:26241055-26241105	ProgFib	skin:	n/a
27	chr7:26240675-26240725	BE2_C	brain:	n/a
28	chr7:26241055-26241105	SK-N-MC	brain:	n/a
29	chr7:26240523-26240573	HRPEpiC	eye:	n/a
30	chr7:26240903-26240953	HCT-116	colon:	n/a
31	chr7:26240939-26240989	ProgFib	skin:	n/a
32	chr7:26240903-26240953	HIPEpiC	eye:	n/a
33	chr7:26240903-26240953	LNCaP	prostate:	n/a
34	chr7:26240443-26240493	Jurkat	blood:	n/a
35	chr7:26239239-26239289	U87	brain:	n/a
36	chr7:26240087-26240137	Caco-2	colon:	n/a
37	chr7:26240087-26240137	IMR90	lung:	fetal
38	chr7:26240903-26240953	HRE	kidney:	n/a
39	chr7:26240443-26240493	HNPCEpiC	eye:	n/a
40	chr7:26239563-26239613	SAEC	small airway:	n/a
41	chr7:26239440-26239490	GM12878	blood:	n/a
42	chr7:26241126-26241176	NB4	blood:	n/a
43	chr7:26240087-26240137	SK-N-SH	brain:	n/a
44	chr7:26241064-26241114	AG09319	gingival:	n/a
45	chr7:26240560-26240610	AG09309	skin:	n/a
46	chr7:26240903-26240953	HRCEpiC	kidney:	n/a
47	chr7:26240458-26240508	MCF-7	breast:	n/a
48	chr7:26240523-26240573	AG10803	skin:	n/a
49	chr7:26240903-26240953	NHBE	bronchial:	n/a
50	chr7:26240939-26240989	PrEC	prostate:	n/a

(count:143 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:17705801..17708591-chr7:26239203..26241423,2	K562	blood:
2	chr10:90595173..90596030-chr7:26237548..26238302,2	MCF-7	breast:
3	chr5:271223..272200-chr7:26239473..26240556,4	Hela-S3	cervix:
4	chr1:155057360..155058066-chr7:26240058..26240666,2	HCT-116	colon:
5	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:
6	chr11:82996883..82997431-chr7:26239995..26240652,2	Hela-S3	cervix:
7	chr12:112450517..112451065-chr7:26240612..26241133,2	Hela-S3	cervix:
8	chr7:26237378..26238939-chr7:26305389..26307516,2	K562	blood:
9	chr7:26239878..26240463-chr7:116593578..116594221,2	Hela-S3	cervix:
10	chr3:195808089..195808909-chr7:26239810..26240342,2	Hela-S3	cervix:
11	chr12:93964244..93964892-chr7:26240134..26240841,2	Hela-S3	cervix:
12	chr7:26240281..26240970-chr9:100818642..100819610,2	Hela-S3	cervix:
13	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
14	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
15	chr10:32344550..32345441-chr7:26239898..26240496,2	Hela-S3	cervix:
16	chr19:44598006..44598820-chr7:26239927..26240583,2	Hela-S3	cervix:
17	chr15:91260025..91260965-chr7:26239886..26240499,2	Hela-S3	cervix:
18	chr2:148601625..148602254-chr7:26239829..26240378,2	NB4	blood:
19	chr2:152117778..152118631-chr7:26240204..26240803,2	NB4	blood:
20	chr16:3184663..3185515-chr7:26239963..26240608,2	NB4	blood:
21	chr20:43594796..43595718-chr7:26239835..26240809,2	Hela-S3	cervix:
22	chr7:26212301..26214165-chr7:26238438..26240076,2	MCF-7	breast:
23	chr16:1822747..1823541-chr7:26240242..26241079,2	Hela-S3	cervix:
24	chr12:46766153..46766956-chr7:26243095..26243758,2	NB4	blood:
25	chr1:113161314..113161870-chr7:26239955..26240937,2	Hela-S3	cervix:
26	chr19:49121941..49122466-chr7:26239392..26240359,2	Hela-S3	cervix:
27	chr13:52026864..52027624-chr7:26240034..26240676,2	NB4	blood:
28	chr1:89149775..89150423-chr7:26239336..26240301,2	Hela-S3	cervix:
29	chr7:26239743..26240406-chr9:20683808..20684602,2	NB4	blood:
30	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
31	chr1:46268308..46270413-chr7:26238840..26240934,2	MCF-7	breast:
32	chr7:26238730..26241133-chr7:139024277..139026837,2	K562	blood:
33	chr11:313579..314474-chr7:26240970..26241885,3	NB4	blood:
34	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
35	chr19:15487333..15489942-chr7:26241262..26242793,2	MCF-7	breast:
36	chr19:16186533..16187310-chr7:26240008..26240799,2	Hela-S3	cervix:
37	chr7:26241333..26241864-chrX:15692264..15693108,2	NB4	blood:
38	chr7:26238958..26239930-chrX:49022734..49023422,2	Hela-S3	cervix:
39	chr6:159275166..159275666-chr7:26239102..26239693,2	Hela-S3	cervix:
40	chr17:1620010..1620539-chr7:26240863..26241470,2	Hela-S3	cervix:
41	chr7:26238387..26240189-chr7:26396014..26397576,2	MCF-7	breast:
42	chr1:28835598..28838005-chr7:26238948..26241176,2	K562	blood:
43	chr17:7387393..7388365-chr7:26240202..26240738,2	HCT-116	colon:
44	chr19:34745443..34746157-chr7:26241322..26241946,2	Hela-S3	cervix:
45	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
46	chr7:26240180..26240884-chr7:63774335..63774890,2	NB4	blood:
47	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
48	chr2:46926271..46927170-chr7:26240072..26240761,2	Hela-S3	cervix:
49	chr19:39925768..39926759-chr7:26240090..26240786,2	Hela-S3	cervix:
50	chr15:65588224..65589308-chr7:26239943..26240916,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
CBX3	CpG island
HNRNPA2B1	CpG island
ENSG00000144560	chromatin interactions
ENSG00000234444	chromatin interactions
ENSG00000101109	chromatin interactions
ENSG00000095261	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000268189	chromatin interactions
ENSG00000110921	chromatin interactions
ENSG00000259736	chromatin interactions
ENSG00000124789	chromatin interactions
ENSG00000132141	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000160075	chromatin interactions
ENSG00000017260	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000147862	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000185885	chromatin interactions
ENSG00000168924	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000170515	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000110628	chromatin interactions
ENSG00000197774	chromatin interactions
ENSG00000120733	chromatin interactions
ENSG00000189143	chromatin interactions
ENSG00000199085	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000227477	chromatin interactions
ENSG00000166398	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000084733	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000184898	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000141564	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000120833	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000101187	chromatin interactions
ENSG00000267002	chromatin interactions
ENSG00000162976	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000163162	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000198270	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000174004	chromatin interactions
ENSG00000084754	chromatin interactions
ENSG00000168803	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000263072	chromatin interactions
ENSG00000188554	chromatin interactions
ENSG00000163964	chromatin interactions
ENSG00000171150	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000198742	chromatin interactions
ENSG00000132680	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000168806	chromatin interactions
ENSG00000113141	chromatin interactions
ENSG00000183684	chromatin interactions
ENSG00000120306	chromatin interactions
ENSG00000227071	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000243147	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000138029	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000145860	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000272269	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000121989	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000264052	chromatin interactions
ENSG00000266430	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000074071	chromatin interactions
ENSG00000138668	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000170759	chromatin interactions
ENSG00000226752	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000131495	chromatin interactions
ENSG00000267680	chromatin interactions
ENSG00000224509	chromatin interactions
ENSG00000197299	chromatin interactions
ENSG00000151208	chromatin interactions
ENSG00000134046	chromatin interactions
ENSG00000087086	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000065243	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000078618	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000085644	chromatin interactions
ENSG00000225792	chromatin interactions
ENSG00000139428	chromatin interactions
ENSG00000232383	chromatin interactions
ENSG00000235159	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000215014	chromatin interactions
ENSG00000188352	chromatin interactions
ENSG00000113522	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000183323	chromatin interactions
ENSG00000086015	chromatin interactions
ENSG00000095002	chromatin interactions
ENSG00000220785	chromatin interactions
ENSG00000106351	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000269955	chromatin interactions

Extended variants
information (count: 495 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111244034	chr7:26236933-26236934	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs143134057	chr7:26236956-26236957	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs542884101	chr7:26236961-26236962	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs367619498	chr7:26237005-26237006	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs562669302	chr7:26237033-26237034	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs531662999	chr7:26237039-26237040	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs370254254	chr7:26237090-26237091	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201555515	chr7:26237094-26237095	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs538106204	chr7:26237095-26237096	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199563374	chr7:26237107-26237108	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs558122025	chr7:26237125-26237126	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs188991428	chr7:26237130-26237131	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547039373	chr7:26237133-26237134	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536691253	chr7:26237165-26237166	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs181406745	chr7:26237166-26237167	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535942734	chr7:26237168-26237169	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545316710	chr7:26237170-26237171	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs367924492	chr7:26237193-26237194	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530956365	chr7:26237195-26237196	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs569093992	chr7:26237199-26237200	Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs201523113	chr7:26237229-26237230	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs41275982	chr7:26237238-26237239	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201039379	chr7:26237240-26237241	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs201124782	chr7:26237246-26237247	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533527065	chr7:26237352-26237353	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368298395	chr7:26237388-26237389	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs371400699	chr7:26237430-26237431	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs57800062	chr7:26237495-26237496	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs1429092	chr7:26237552-26237553	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs149718948	chr7:26237557-26237558	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs553671117	chr7:26237564-26237565	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs185576541	chr7:26237581-26237582	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs574232094	chr7:26237608-26237609	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs11971308	chr7:26237609-26237610	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71953553	chr7:26237638-26237639	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs557997088	chr7:26237645-26237646	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs543480709	chr7:26237649-26237650	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs576868237	chr7:26237659-26237660	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs145309516	chr7:26237675-26237676	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs545583719	chr7:26237691-26237692	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs10255851	chr7:26237692-26237693	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575770460	chr7:26237722-26237723	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs544848533	chr7:26237785-26237786	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs190728847	chr7:26237803-26237804	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs561550234	chr7:26237808-26237809	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs544847022	chr7:26237825-26237826	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs565196106	chr7:26237846-26237847	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs527583734	chr7:26237849-26237850	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs376947490	chr7:26237901-26237902	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs142318033	chr7:26237904-26237905	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
5	chr7:26232200-26237000	Genic enhancers	Fetal Intestine Large	intestine
6	chr7:26232200-26237200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
8	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr7:26233400-26237200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
13	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
14	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:26234600-26237400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:26234600-26238200	Weak transcription	Gastric	stomach
18	chr7:26234800-26237200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
19	chr7:26234800-26237400	Transcr. at gene 5' and 3'	NHLF	lung
20	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
23	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
24	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:26234800-26240000	Active TSS	Right Atrium	heart
26	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
27	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
28	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
32	chr7:26235000-26237400	Transcr. at gene 5' and 3'	HMEC	breast
33	chr7:26235000-26238200	Weak transcription	Small Intestine	intestine
34	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
35	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
36	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr7:26235200-26237200	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:26235400-26237200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr7:26235400-26237200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
40	chr7:26235400-26237200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
41	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
44	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:26235600-26237000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:26235600-26237000	Genic enhancers	Fetal Stomach	stomach
48	chr7:26235600-26237400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
50	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose

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