Variant report

Variant	nsv890357
Chromosome Location	chr8:11286146-11330364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1691)
CpG islands
(count:1343)
Chromatin interactive
region (count:46)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11316723-11316731	K562	blood:	n/a	n/a
2	ATF2	chr8:11324764-11325260	GM12878	blood:	n/a	n/a
3	ATF2	chr8:11323929-11324646	GM12878	blood:	n/a	chr8:11324301-11324315
4	ATF2	chr8:11315280-11316048	GM12878	blood:	n/a	n/a
5	ATF2	chr8:11315230-11315949	GM12878	blood:	n/a	n/a
6	ATF2	chr8:11324016-11324675	GM12878	blood:	n/a	chr8:11324301-11324315
7	ATF2	chr8:11324173-11324549	H1-hESC	embryonic stem cell:	n/a	chr8:11324301-11324315
8	ATF3	chr8:11324094-11324537	A549	lung:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
9	ATF3	chr8:11315223-11315952	A549	lung:	n/a	n/a
10	ATF3	chr8:11324145-11324449	K562	blood:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
11	ATF3	chr8:11315223-11315713	A549	lung:	n/a	n/a
12	BACH1	chr8:11324297-11324869	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr8:11325083-11325410	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr8:11306463-11306721	GM12878	blood:	n/a	n/a
15	BATF	chr8:11315460-11315847	GM12878	blood:	n/a	chr8:11315647-11315658
16	BATF	chr8:11309352-11309615	GM12878	blood:	n/a	n/a
17	BATF	chr8:11315333-11315981	GM12878	blood:	n/a	chr8:11315647-11315658
18	BCL11A	chr8:11324299-11324584	GM12878	blood:	n/a	n/a
19	BCL11A	chr8:11315340-11315826	GM12878	blood:	n/a	n/a
20	BCL11A	chr8:11324115-11324617	GM12878	blood:	n/a	chr8:11324201-11324214
21	BCL3	chr8:11315168-11315821	A549	lung:	n/a	n/a
22	BCL3	chr8:11315296-11316136	GM12878	blood:	n/a	n/a
23	BCL3	chr8:11314572-11315907	A549	lung:	n/a	chr8:11314807-11314816 chr8:11314808-11314817
24	BCL3	chr8:11324188-11324646	A549	lung:	n/a	chr8:11324201-11324214
25	BCL3	chr8:11313823-11314324	A549	lung:	n/a	n/a
26	BCL3	chr8:11323781-11324619	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
27	BCLAF1	chr8:11324924-11325508	GM12878	blood:	n/a	n/a
28	BCLAF1	chr8:11324052-11324629	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
29	BCLAF1	chr8:11314623-11314958	GM12878	blood:	n/a	chr8:11314807-11314816 chr8:11314808-11314817
30	BCLAF1	chr8:11315159-11315940	GM12878	blood:	n/a	n/a
31	BCLAF1	chr8:11323892-11324893	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
32	BCLAF1	chr8:11315297-11315807	GM12878	blood:	n/a	n/a
33	BHLHE40	chr8:11322082-11322201	HepG2	liver:	n/a	chr8:11322115-11322124 chr8:11322115-11322124
34	BHLHE40	chr8:11322057-11322513	GM12878	blood:	n/a	chr8:11322115-11322124 chr8:11322115-11322124
35	BHLHE40	chr8:11309766-11310197	GM12878	blood:	n/a	n/a
36	BHLHE40	chr8:11314182-11314305	K562	blood:	n/a	n/a
37	BHLHE40	chr8:11314068-11314435	GM12878	blood:	n/a	n/a
38	BHLHE40	chr8:11322754-11322953	K562	blood:	n/a	n/a
39	BHLHE40	chr8:11315302-11315756	GM12878	blood:	n/a	n/a
40	BHLHE40	chr8:11286896-11287078	K562	blood:	n/a	chr8:11286996-11287012
41	BHLHE40	chr8:11298120-11298613	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:11309054-11309254	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:11315256-11315652	A549	lung:	n/a	n/a
44	BHLHE40	chr8:11287799-11288033	GM12878	blood:	n/a	n/a
45	BHLHE40	chr8:11323979-11325425	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:11321996-11322254	K562	blood:	n/a	chr8:11322115-11322124 chr8:11322115-11322124
47	BRCA1	chr8:11324423-11324430	HepG2	liver:	n/a	n/a
48	BRCA1	chr8:11324253-11324739	GM12878	blood:	n/a	n/a
49	BRCA1	chr8:11324182-11324535	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr8:11325087-11325358	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11320112-11320162	PrEC	prostate:	n/a
2	chr8:11320112-11320162	PrEC	prostate:	n/a
3	chr8:11327014-11327064	ovcar-3	ovarian:	n/a
4	chr8:11302983-11303033	IMR90	lung:	fetal
5	chr8:11324244-11324294	Caco-2	colon:	n/a
6	chr8:11324666-11324716	GM19239	blood:	n/a
7	chr8:11287657-11287707	RPTEC	kidney:	n/a
8	chr8:11324446-11324496	BE2_C	brain:	n/a
9	chr8:11320112-11320162	NT2-D1	testis:	n/a
10	chr8:11287657-11287707	HepG2	liver:	n/a
11	chr8:11287657-11287707	PrEC	prostate:	n/a
12	chr8:11302983-11303033	GM12892	blood:	n/a
13	chr8:11324806-11324856	HIPEpiC	eye:	n/a
14	chr8:11320112-11320162	IMR90	lung:	fetal
15	chr8:11311868-11311918	HRPEpiC	eye:	n/a
16	chr8:11311868-11311918	NT2-D1	testis:	n/a
17	chr8:11324666-11324716	ovcar-3	ovarian:	n/a
18	chr8:11324806-11324856	SK-N-SH_RA	brain:	n/a
19	chr8:11324327-11324377	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:11311868-11311918	NHBE	bronchial:	n/a
21	chr8:11324806-11324856	HCT-116	colon:	n/a
22	chr8:11324806-11324856	HCF	heart:	n/a
23	chr8:11324048-11324098	HEEpiC	esophagus:	n/a
24	chr8:11303039-11303089	MCF-7	breast:	n/a
25	chr8:11324446-11324496	H1-hESC	embryonic stem cell:	embryo
26	chr8:11324448-11324498	HL-60	blood:	n/a
27	chr8:11302197-11302247	K562	blood:	n/a
28	chr8:11320112-11320162	HL-60	blood:	n/a
29	chr8:11327014-11327064	RPTEC	kidney:	n/a
30	chr8:11287657-11287707	SK-N-SH	brain:	n/a
31	chr8:11304273-11304323	SKMC	muscle:	n/a
32	chr8:11323474-11323524	MCF-7	breast:	n/a
33	chr8:11324448-11324498	HRE	kidney:	n/a
34	chr8:11324446-11324496	SK-N-SH_RA	brain:	n/a
35	chr8:11324327-11324377	BJ	skin:	n/a
36	chr8:11324806-11324856	BJ	skin:	n/a
37	chr8:11324048-11324098	T-47D	breast:	n/a
38	chr8:11324666-11324716	SK-N-SH_RA	brain:	n/a
39	chr8:11327014-11327064	SAEC	small airway:	n/a
40	chr8:11303039-11303089	NB4	blood:	n/a
41	chr8:11324806-11324856	ProgFib	skin:	n/a
42	chr8:11302243-11302293	PFSK-1	brain:	n/a
43	chr8:11302030-11302080	HCT-116	colon:	n/a
44	chr8:11302983-11303033	HUVEC	blood vessel:	n/a
45	chr8:11304273-11304323	HepG2	liver:	n/a
46	chr8:11324327-11324377	ProgFib	skin:	n/a
47	chr8:11302983-11303033	NT2-D1	testis:	n/a
48	chr8:11302030-11302080	IMR90	lung:	fetal
49	chr8:11303039-11303089	SK-N-SH	brain:	n/a
50	chr8:11303828-11303878	HNPCEpiC	eye:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
2	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
3	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
4	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
5	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
6	chr8:11302281..11304397-chr8:11308190..11310452,3	K562	blood:
7	chr8:11319006..11321957-chr8:11323524..11325949,2	MCF-7	breast:
8	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
9	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
10	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
11	chr8:11322432..11325165-chr8:11325928..11329477,5	MCF-7	breast:
12	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
13	chr8:11268366..11270477-chr8:11325534..11327747,2	MCF-7	breast:
14	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
15	chr8:11299743..11301452-chr8:11307305..11309157,2	MCF-7	breast:
16	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:
17	chr8:11311333..11313794-chr8:11324898..11327371,2	K562	blood:
18	chr8:11297528..11299485-chr8:11309455..11311186,2	K562	blood:
19	chr8:11159367..11162691-chr8:11316510..11321033,4	K562	blood:
20	chr8:11303373..11305446-chr8:11310341..11312400,2	K562	blood:
21	chr8:11294217..11296027-chr8:11297947..11300867,2	MCF-7	breast:
22	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
23	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
24	chr8:11204194..11206548-chr8:11284736..11287319,2	K562	blood:
25	chr8:11291994..11295873-chr8:11300373..11305945,6	K562	blood:
26	chr8:11271338..11271849-chr8:11286552..11287065,2	MCF-7	breast:
27	chr8:11194174..11194960-chr8:11325192..11325823,2	K562	blood:
28	chr8:11306364..11309144-chr8:11311400..11314118,3	MCF-7	breast:
29	chr8:11269226..11269868-chr8:11286430..11287417,2	K562	blood:
30	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:
31	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
32	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
33	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
34	chr8:11278797..11280380-chr8:11316966..11319071,2	K562	blood:
35	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:
36	chr8:11297528..11299485-chr8:11309455..11311186,2	K562	blood:
37	chr8:11306364..11309144-chr8:11311400..11314118,3	MCF-7	breast:
38	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
39	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:
40	chr8:11297376..11298167-chr8:11588230..11588817,3	MCF-7	breast:
41	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
42	chr8:11294217..11296027-chr8:11297947..11300867,2	MCF-7	breast:
43	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
44	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
45	chr8:11280386..11282841-chr8:11298445..11301046,2	MCF-7	breast:
46	chr8:11268709..11269611-chr8:11315574..11316471,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf12-1	chr8:11295945-11296166	NONHSAT125056
2	lnc-C8orf12-1	chr8:11292339-11292510	NONHSAT125054
3	lnc-C8orf12-1	chr8:11291429-11291644	NR_026814
4	lnc-RP11-148O21.3.1-3	chr8:11302929-11303079	NONHSAT125061
5	lnc-C8orf12-1	chr8:11295945-11296166	NR_026814
6	lnc-C8orf12-1	chr8:11295549-11295719	NONHSAT125056
7	lnc-RP11-148O21.3.1-3	chr8:11324135-11324244	NONHSAT125061
8	lnc-C8orf12-1	chr8:11328839-11329054	ucscGeneNc_uc003wtu_2
9	lnc-C8orf12-1	chr8:11292339-11292611	NONHSAT125056
10	lnc-C8orf12-1	chr8:11291429-11291644	NONHSAT125056
11	lnc-C8orf12-1	chr8:11295985-11296084	ucscGeneNc_uc003wtu_2
12	lnc-RP11-148O21.3.1-3	chr8:11303912-11304130	NONHSAT125061
13	lnc-RP11-148O21.3.1-3	chr8:11302086-11302317	NONHSAT125061
14	lnc-C8orf12-1	chr8:11295549-11295719	NR_026814
15	lnc-C8orf12-1	chr8:11291429-11291644	NONHSAT125054
16	lnc-C8orf12-1	chr8:11329749-11330021	ucscGeneNc_uc003wtu_2
17	lnc-C8orf12-1	chr8:11292339-11292611	NR_026814

No data

Variant related genes	Relation type
C8orf12	TF binding region
FAM167A	TF binding region
C8orf12	CpG island
FAM167A	CpG island
ENSG00000255020	chromatin interactions
ENSG00000154316	chromatin interactions
ENSG00000154319	chromatin interactions

Extended variants
information (count: 2685 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:2685 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7844834	chr8:11286146-11286147	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114055630	chr8:11286148-11286149	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191714169	chr8:11286155-11286156	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529998549	chr8:11286172-11286173	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544137305	chr8:11286174-11286175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565530111	chr8:11286222-11286223	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181324786	chr8:11286238-11286239	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544952894	chr8:11286239-11286240	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556775935	chr8:11286246-11286247	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527379076	chr8:11286273-11286274	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548949296	chr8:11286316-11286317	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142088734	chr8:11286333-11286334	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570514199	chr8:11286382-11286383	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549685891	chr8:11286385-11286386	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs78892087	chr8:11286397-11286398	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553371736	chr8:11286401-11286402	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185293606	chr8:11286410-11286411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189737457	chr8:11286528-11286529	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs547749090	chr8:11286549-11286550	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566085982	chr8:11286551-11286552	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs36038555	chr8:11286555-11286556	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs555059023	chr8:11286563-11286564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182202487	chr8:11286592-11286593	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs139127265	chr8:11286597-11286598	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187925562	chr8:11286613-11286614	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs36118079	chr8:11286621-11286622	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548530283	chr8:11286635-11286636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544705034	chr8:11286645-11286646	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs191919099	chr8:11286662-11286663	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs149936205	chr8:11286740-11286741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145070244	chr8:11286753-11286754	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183783877	chr8:11286803-11286804	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531418589	chr8:11286826-11286827	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs549550712	chr8:11286867-11286868	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs535791975	chr8:11286891-11286892	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs564865857	chr8:11286905-11286906	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs532431945	chr8:11286937-11286938	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs547513571	chr8:11286985-11286986	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539243949	chr8:11287004-11287005	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs555890671	chr8:11287006-11287007	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs142307220	chr8:11287013-11287014	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs188468598	chr8:11287015-11287016	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs548718990	chr8:11287019-11287020	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs575438917	chr8:11287020-11287021	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs193043049	chr8:11287021-11287022	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs184810372	chr8:11287042-11287043	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs10503423	chr8:11287081-11287082	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs577509524	chr8:11287099-11287100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557471953	chr8:11287100-11287101	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535337447	chr8:11287117-11287118	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
3	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:11273000-11287000	Weak transcription	NHEK	skin
5	chr8:11276600-11291200	Weak transcription	Gastric	stomach
6	chr8:11277600-11287000	Enhancers	Fetal Thymus	thymus
7	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
11	chr8:11281600-11286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:11282200-11286600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:11282200-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:11282200-11287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:11282600-11286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11283800-11286400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:11283800-11287200	Enhancers	Thymus	Thymus
18	chr8:11283800-11288000	Enhancers	Brain Substantia Nigra	brain
19	chr8:11284000-11286400	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:11284000-11287400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:11284200-11288400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:11284400-11287400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:11284600-11286400	Enhancers	Brain Anterior Caudate	brain
24	chr8:11284600-11287600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:11284600-11288000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11284800-11286200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:11284800-11287600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr8:11284800-11287800	Enhancers	Brain Angular Gyrus	brain
29	chr8:11284800-11288200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:11284800-11288200	Enhancers	Brain Hippocampus Middle	brain
31	chr8:11284800-11288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:11285000-11287200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:11285200-11286200	Weak transcription	Fetal Brain Male	brain
34	chr8:11285200-11286200	Weak transcription	Fetal Brain Female	brain
35	chr8:11285200-11286600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:11285400-11286200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr8:11285400-11286400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:11285400-11287600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:11285600-11286400	Bivalent Enhancer	HepG2	liver
40	chr8:11285800-11287400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr8:11285800-11287400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:11285800-11287800	Enhancers	Fetal Intestine Large	intestine
43	chr8:11285800-11287800	Enhancers	Fetal Intestine Small	intestine
44	chr8:11286000-11286200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:11286000-11286400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr8:11286000-11286400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:11286000-11286800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:11286000-11287000	Weak transcription	Placenta	Placenta
49	chr8:11286000-11295200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:11286200-11286600	Enhancers	Fetal Brain Female	brain

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