Variant report

Variant	nsv608987
Chromosome Location	chr7:149509981-149547703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1027)
CpG islands
(count:1588)
Chromatin interactive
region (count:72)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1027 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149543281-149543298	K562	blood:	n/a	n/a
2	ARID3A	chr7:149535139-149535495	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:149534971-149535569	K562	blood:	n/a	n/a
4	ARID3A	chr7:149535841-149535998	K562	blood:	n/a	n/a
5	ATF1	chr7:149542225-149542404	K562	blood:	n/a	n/a
6	ATF1	chr7:149535083-149535603	K562	blood:	n/a	n/a
7	ATF2	chr7:149535204-149535758	GM12878	blood:	n/a	n/a
8	ATF3	chr7:149535244-149535639	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr7:149535238-149535658	HepG2	liver:	n/a	n/a
10	ATF3	chr7:149535189-149535637	GM12878	blood:	n/a	n/a
11	ATF3	chr7:149535201-149535664	K562	blood:	n/a	n/a
12	ATF3	chr7:149535278-149535707	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr7:149535296-149535599	GM12878	blood:	n/a	n/a
14	ATF3	chr7:149535169-149535747	HepG2	liver:	n/a	n/a
15	BACH1	chr7:149534875-149535446	K562	blood:	n/a	n/a
16	BACH1	chr7:149522460-149522788	K562	blood:	n/a	n/a
17	BACH1	chr7:149536416-149536466	K562	blood:	n/a	n/a
18	BATF	chr7:149543759-149544019	GM12878	blood:	n/a	chr7:149543873-149543884
19	BATF	chr7:149543708-149544006	GM12878	blood:	n/a	chr7:149543873-149543884
20	BCLAF1	chr7:149535230-149535768	GM12878	blood:	n/a	chr7:149535443-149535456 chr7:149535653-149535666 chr7:149535657-149535670 chr7:149535352-149535365
21	BCLAF1	chr7:149535237-149535739	GM12878	blood:	n/a	chr7:149535443-149535456 chr7:149535653-149535666 chr7:149535657-149535670 chr7:149535352-149535365
22	BHLHE40	chr7:149510941-149511230	K562	blood:	n/a	chr7:149511089-149511098 chr7:149511089-149511098 chr7:149511088-149511097
23	BHLHE40	chr7:149540754-149540954	K562	blood:	n/a	n/a
24	BHLHE40	chr7:149535220-149535868	GM12878	blood:	n/a	chr7:149535444-149535460 chr7:149535441-149535457 chr7:149535627-149535643
25	BHLHE40	chr7:149519647-149519856	K562	blood:	n/a	n/a
26	BHLHE40	chr7:149523724-149523906	K562	blood:	n/a	n/a
27	BHLHE40	chr7:149543807-149544025	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:149532297-149532624	K562	blood:	n/a	n/a
29	BHLHE40	chr7:149535211-149536107	HepG2	liver:	n/a	chr7:149535444-149535460 chr7:149535441-149535457 chr7:149535627-149535643
30	BHLHE40	chr7:149546354-149546586	K562	blood:	n/a	n/a
31	BHLHE40	chr7:149524649-149524883	K562	blood:	n/a	n/a
32	BHLHE40	chr7:149538185-149538369	K562	blood:	n/a	n/a
33	BHLHE40	chr7:149534828-149536545	K562	blood:	n/a	chr7:149535444-149535460 chr7:149535441-149535457 chr7:149535627-149535643
34	BHLHE40	chr7:149522421-149522941	K562	blood:	n/a	n/a
35	BRCA1	chr7:149535001-149535571	HepG2	liver:	n/a	n/a
36	BRCA1	chr7:149535861-149536038	HepG2	liver:	n/a	n/a
37	BRCA1	chr7:149535066-149536265	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr7:149536319-149536386	GM12878	blood:	n/a	n/a
39	BRCA1	chr7:149535309-149535708	GM12878	blood:	n/a	n/a
40	CBX3	chr7:149522399-149522750	K562	blood:	n/a	n/a
41	CBX3	chr7:149535736-149536379	K562	blood:	n/a	n/a
42	CBX3	chr7:149534866-149535654	K562	blood:	n/a	n/a
43	CBX3	chr7:149518671-149518986	K562	blood:	n/a	n/a
44	CCNT2	chr7:149535179-149536095	K562	blood:	n/a	chr7:149535664-149535673
45	CCNT2	chr7:149516822-149516848	K562	blood:	n/a	n/a
46	CEBPB	chr7:149537756-149538225	MCF-7	breast:	n/a	n/a
47	CEBPB	chr7:149542278-149542620	HepG2	liver:	n/a	chr7:149542418-149542429
48	CEBPB	chr7:149535172-149535790	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:149537897-149538139	K562	blood:	n/a	n/a
50	CEBPB	chr7:149535211-149535507	K562	blood:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149543136-149543186	SK-N-SH_RA	brain:	n/a
2	chr7:149535383-149535433	BJ	skin:	n/a
3	chr7:149543136-149543186	SK-N-SH_RA	brain:	n/a
4	chr7:149535383-149535433	BJ	skin:	n/a
5	chr7:149535378-149535428	AoSMC	blood vessel:	n/a
6	chr7:149535361-149535411	Hepatocyte	liver:	n/a
7	chr7:149518917-149518967	AG04449	skin:	fetal
8	chr7:149528625-149528675	CMK	blood:	n/a
9	chr7:149535402-149535452	HepG2	liver:	n/a
10	chr7:149519165-149519215	Hela-S3	cervix:	n/a
11	chr7:149532221-149532271	HRE	kidney:	n/a
12	chr7:149542110-149542160	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:149535071-149535121	NH-A	brain:	n/a
14	chr7:149535494-149535544	HCM	heart:	n/a
15	chr7:149530984-149531034	AG04450	lung:	fetal
16	chr7:149535246-149535296	GM19239	blood:	n/a
17	chr7:149519042-149519092	HCT-116	colon:	n/a
18	chr7:149530984-149531034	HRPEpiC	eye:	n/a
19	chr7:149534440-149534490	SK-N-MC	brain:	n/a
20	chr7:149530984-149531034	CMK	blood:	n/a
21	chr7:149535378-149535428	HAEpiC	amniotic membrane:	n/a
22	chr7:149528625-149528675	SKMC	muscle:	n/a
23	chr7:149518917-149518967	HMEC	breast:	n/a
24	chr7:149535378-149535428	SK-N-SH_RA	brain:	n/a
25	chr7:149541889-149541939	HMEC	breast:	n/a
26	chr7:149535071-149535121	Jurkat	blood:	n/a
27	chr7:149513076-149513126	HUVEC	blood vessel:	n/a
28	chr7:149513076-149513126	IMR90	lung:	fetal
29	chr7:149543136-149543186	NT2-D1	testis:	n/a
30	chr7:149536854-149536904	HL-60	blood:	n/a
31	chr7:149535246-149535296	HCF	heart:	n/a
32	chr7:149534440-149534490	HRE	kidney:	n/a
33	chr7:149543177-149543227	BE2_C	brain:	n/a
34	chr7:149518783-149518833	NH-A	brain:	n/a
35	chr7:149535071-149535121	HRCEpiC	kidney:	n/a
36	chr7:149535383-149535433	HMEC	breast:	n/a
37	chr7:149528625-149528675	HCM	heart:	n/a
38	chr7:149542110-149542160	AG04449	skin:	fetal
39	chr7:149517605-149517655	NHDF-neo	bronchial:	n/a
40	chr7:149517605-149517655	U87	brain:	n/a
41	chr7:149534440-149534490	GM12892	blood:	n/a
42	chr7:149535717-149535767	AoSMC	blood vessel:	n/a
43	chr7:149541889-149541939	HCT-116	colon:	n/a
44	chr7:149542110-149542160	SK-N-SH_RA	brain:	n/a
45	chr7:149513076-149513126	BE2_C	brain:	n/a
46	chr7:149517519-149517569	HRPEpiC	eye:	n/a
47	chr7:149528625-149528675	HEEpiC	esophagus:	n/a
48	chr7:149536854-149536904	Hela-S3	cervix:	n/a
49	chr7:149519042-149519092	CMK	blood:	n/a
50	chr7:149519165-149519215	Caco-2	colon:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:149512078..149513858-chr7:149526816..149528695,2	K562	blood:
2	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
3	chr7:149536256..149537911-chr7:149545323..149547402,2	K562	blood:
4	chr7:149536138..149537939-chr7:149539704..149541464,2	MCF-7	breast:
5	chr7:149543034..149545015-chr7:149568113..149570741,2	MCF-7	breast:
6	chr7:149529865..149532703-chr7:149533708..149536513,3	K562	blood:
7	chr7:149469487..149472454-chr7:149520687..149524368,4	MCF-7	breast:
8	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
9	chr7:149507999..149508613-chr7:149541543..149542437,2	MCF-7	breast:
10	chr7:149538288..149539809-chr7:149546755..149548278,2	MCF-7	breast:
11	chr7:149504416..149504923-chr7:149545982..149546934,2	K562	blood:
12	chr7:149417465..149419893-chr7:149536657..149538216,2	K562	blood:
13	chr7:149535387..149537529-chr7:149547315..149549449,2	MCF-7	breast:
14	chr7:149507677..149512507-chr7:149515794..149520918,4	MCF-7	breast:
15	chr7:149533956..149535682-chr7:149545253..149548540,3	K562	blood:
16	chr7:149535432..149538355-chr7:150102358..150106003,3	MCF-7	breast:
17	chr7:149520300..149522663-chr7:149528223..149532765,6	K562	blood:
18	chr7:149533956..149535682-chr7:149545253..149548540,3	K562	blood:
19	chr7:149510179..149511771-chr7:149515301..149517284,2	K562	blood:
20	chr7:149473373..149475721-chr7:149519077..149521805,2	MCF-7	breast:
21	chr7:149486923..149488789-chr7:149516308..149518311,2	MCF-7	breast:
22	chr7:149543004..149545086-chr7:149546997..149549255,2	MCF-7	breast:
23	chr7:149520138..149525012-chr7:149525705..149530067,6	K562	blood:
24	chr7:149520043..149524365-chr7:149535249..149538309,4	MCF-7	breast:
25	chr7:149479515..149482094-chr7:149544911..149547463,2	MCF-7	breast:
26	chr7:149535857..149538432-chr7:149551451..149554289,3	MCF-7	breast:
27	chr7:149542392..149544119-chr7:149568083..149570783,2	K562	blood:
28	chr7:149516696..149519376-chr7:149534960..149537116,2	MCF-7	breast:
29	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:
30	chr7:149535343..149536931-chr7:149547392..149550074,2	K562	blood:
31	chr7:149541182..149543839-chr7:149558694..149561478,2	MCF-7	breast:
32	chr7:149520369..149522519-chr7:149531265..149532920,2	K562	blood:
33	chr7:149536138..149537939-chr7:149539704..149541464,2	MCF-7	breast:
34	chr7:149503783..149504300-chr7:149546267..149547084,2	MCF-7	breast:
35	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
36	chr7:149522536..149524749-chr7:149527461..149529339,2	MCF-7	breast:
37	chr7:149523690..149527919-chr7:149530550..149536303,6	K562	blood:
38	chr7:149516921..149520355-chr7:149520763..149523628,3	MCF-7	breast:
39	chr7:149547476..149550736-chr7:149568878..149571738,3	K562	blood:
40	chr7:149470096..149472502-chr7:149535858..149537957,2	K562	blood:
41	chr7:149534234..149537343-chr7:149542425..149544829,4	MCF-7	breast:
42	chr7:149543313..149544874-chr7:149550730..149553564,2	MCF-7	breast:
43	chr7:149504930..149508041-chr7:149510970..149514779,4	MCF-7	breast:
44	chr1:144533785..144534480-chr7:149535088..149535984,2	Hela-S3	cervix:
45	chr7:149503718..149504886-chr7:149546056..149546960,4	MCF-7	breast:
46	chr7:26228340..26228840-chr7:149534844..149535345,2	NB4	blood:
47	chr7:149482558..149484845-chr7:149519799..149522299,2	K562	blood:
48	chr7:149516696..149519376-chr7:149534960..149537116,2	MCF-7	breast:
49	chr7:149519166..149522155-chr7:149524141..149525911,2	K562	blood:
50	chr7:149520950..149523634-chr7:149534004..149537065,3	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF862-1	chr7:149524858-149524980	ENSG00000197558.7
2	lnc-ZNF862-1	chr7:149522364-149522480	ENSG00000197558.7
3	lnc-ATP6V0E2-6	chr7:149541714-149542180	NONHSAT124069
4	lnc-ZNF862-1	chr7:149521826-149522213	NONHSAT124065
5	lnc-ATP6V0E2-6	chr7:149535464-149535550	NONHSAT124069
6	lnc-ZNF862-1	chr7:149519233-149519286	ENSG00000197558.7
7	lnc-ZNF862-1	chr7:149520813-149520937	ENSG00000197558.7
8	lnc-ZNF862-1	chr7:149522364-149522480	NONHSAT124065
9	lnc-ZNF862-1	chr7:149525922-149526085	NONHSAT124068
10	lnc-ZNF862-1	chr7:149524858-149525016	NONHSAT124065
11	lnc-ZNF862-1	chr7:149528224-149528823	NONHSAT124068

No data

Variant related genes	Relation type
ZNF862	TF binding region
SSPO	TF binding region
ZNF862	CpG island
SSPO	CpG island
ENSG00000273419	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000197558	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000133619	chromatin interactions
ENSG00000204934	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000133624	chromatin interactions
TMEM109	miRNA target sites
CDIPT	miRNA target sites

Extended variants
information (count: 1909 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1909 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs757725	chr7:149509981-149509982	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528581599	chr7:149509986-149509987	Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183299905	chr7:149510046-149510047	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565458400	chr7:149510089-149510090	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531135586	chr7:149510091-149510092	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375432342	chr7:149510121-149510122	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142040342	chr7:149510123-149510124	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540755949	chr7:149510149-149510150	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529676386	chr7:149510171-149510172	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570801610	chr7:149510214-149510215	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546724022	chr7:149510221-149510222	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534729916	chr7:149510271-149510272	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs33953944	chr7:149510272-149510273	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201612353	chr7:149510276-149510277	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3085319	chr7:149510277-149510278	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200879775	chr7:149510278-149510279	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201987745	chr7:149510279-149510280	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75527975	chr7:149510310-149510311	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572055665	chr7:149510367-149510368	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558506203	chr7:149510368-149510369	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200225933	chr7:149510421-149510422	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537773107	chr7:149510439-149510440	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554409033	chr7:149510442-149510443	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536144160	chr7:149510474-149510475	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573700688	chr7:149510479-149510480	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542658188	chr7:149510486-149510487	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554304421	chr7:149510487-149510488	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187452667	chr7:149510491-149510492	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576173421	chr7:149510523-149510524	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192316450	chr7:149510543-149510544	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10252161	chr7:149510552-149510553	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143096694	chr7:149510568-149510569	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544933426	chr7:149510601-149510602	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75216177	chr7:149510611-149510612	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374990779	chr7:149510617-149510618	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148348165	chr7:149510630-149510631	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546660756	chr7:149510657-149510658	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560079869	chr7:149510692-149510693	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532137468	chr7:149510714-149510715	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370799371	chr7:149510717-149510718	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373313344	chr7:149510724-149510725	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376447162	chr7:149510731-149510732	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568973103	chr7:149510779-149510780	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567417733	chr7:149510784-149510785	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371206951	chr7:149510798-149510799	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374255428	chr7:149510800-149510801	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537552706	chr7:149510801-149510802	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs367809557	chr7:149510831-149510832	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370643452	chr7:149510839-149510840	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537602507	chr7:149510856-149510857	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149473800-149534800	Weak transcription	Right Atrium	heart
2	chr7:149487600-149518400	Weak transcription	Gastric	stomach
3	chr7:149490600-149520200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:149490800-149514400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:149500800-149510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:149503600-149511600	Weak transcription	Fetal Stomach	stomach
7	chr7:149508000-149512400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:149509600-149511200	Enhancers	Primary T cells from cord blood	blood
9	chr7:149510000-149510200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:149510000-149511200	Enhancers	Fetal Thymus	thymus
11	chr7:149510200-149510600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:149510200-149510800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:149510200-149511000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr7:149510200-149511000	Enhancers	K562	blood
15	chr7:149510200-149511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:149510400-149510800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:149510400-149510800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:149510400-149514200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:149510400-149514200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:149510600-149510800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:149510600-149511000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:149510600-149512200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:149510800-149512000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:149510800-149512000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:149510800-149512400	Weak transcription	Liver	Liver
26	chr7:149511000-149511200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr7:149511200-149534800	Weak transcription	Primary T cells from cord blood	blood
28	chr7:149511600-149511800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:149511800-149513200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:149512000-149512200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:149512000-149512400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:149512000-149513200	Enhancers	HepG2	liver
33	chr7:149512000-149513600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:149512000-149513800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:149512200-149512600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:149512200-149513600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:149512200-149515400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr7:149512400-149512600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:149512400-149512800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:149512400-149512800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:149512400-149513400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:149512400-149513400	Enhancers	Liver	Liver
43	chr7:149512600-149512800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:149512600-149513200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:149512800-149513000	Bivalent Enhancer	Fetal Stomach	stomach
46	chr7:149512800-149513200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:149512800-149513800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:149512800-149514200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:149513000-149513400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:149513000-149513800	Enhancers	Placenta	Placenta

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