Variant report

Variant	nsv1024804
Chromosome Location	chr8:125575803-125600950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:122)
Chromatin interactive
region (count:62)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:125595511-125595924	K562	blood:	n/a	n/a
2	ARID3A	chr8:125575830-125576206	HepG2	liver:	n/a	chr8:125575860-125575876
3	ATF1	chr8:125576891-125577116	K562	blood:	n/a	n/a
4	BCL11A	chr8:125598142-125598349	GM12878	blood:	n/a	n/a
5	BCL3	chr8:125575852-125576113	GM12878	blood:	n/a	n/a
6	BCL3	chr8:125575859-125576156	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:125587476-125587944	K562	blood:	n/a	n/a
8	BHLHE40	chr8:125586686-125587056	K562	blood:	n/a	n/a
9	BHLHE40	chr8:125575860-125576236	HepG2	liver:	n/a	n/a
10	BHLHE40	chr8:125595541-125595865	K562	blood:	n/a	n/a
11	BHLHE40	chr8:125596657-125596762	K562	blood:	n/a	n/a
12	CBX3	chr8:125586503-125587242	K562	blood:	n/a	n/a
13	CBX3	chr8:125576389-125577323	K562	blood:	n/a	n/a
14	CCNT2	chr8:125576482-125577148	K562	blood:	n/a	n/a
15	CCNT2	chr8:125595533-125595945	K562	blood:	n/a	n/a
16	CEBPB	chr8:125595707-125595782	Hela-S3	cervix:	n/a	chr8:125595727-125595738 chr8:125595727-125595738
17	CEBPB	chr8:125591487-125591877	K562	blood:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
18	CEBPB	chr8:125590095-125590313	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:125591509-125591876	K562	blood:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
20	CEBPB	chr8:125591507-125591847	Hela-S3	cervix:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
21	CEBPB	chr8:125595535-125595948	K562	blood:	n/a	chr8:125595727-125595738 chr8:125595727-125595738
22	CEBPB	chr8:125591518-125591846	A549	lung:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
23	CEBPB	chr8:125591536-125591857	HepG2	liver:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
24	CEBPB	chr8:125591479-125591887	IMR90	lung:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
25	CEBPB	chr8:125575909-125576108	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:125595388-125595971	K562	blood:	n/a	chr8:125595727-125595738 chr8:125595727-125595738
27	CEBPB	chr8:125595532-125595836	K562	blood:	n/a	chr8:125595727-125595738 chr8:125595727-125595738
28	CEBPD	chr8:125576717-125577231	K562	blood:	n/a	n/a
29	CEBPD	chr8:125595400-125595922	K562	blood:	n/a	n/a
30	CEBPD	chr8:125595399-125596015	K562	blood:	n/a	n/a
31	CTCF	chr8:125598228-125598281	NHEK	skin:	n/a	n/a
32	CTCF	chr8:125576640-125576790	GM12869	blood:	n/a	chr8:125576737-125576750
33	CTCF	chr8:125576674-125576787	GM13976	blood:	n/a	chr8:125576737-125576750
34	CTCF	chr8:125576720-125576870	K562	blood:	n/a	chr8:125576737-125576750
35	CTCF	chr8:125576720-125576870	GM06990	blood:	n/a	chr8:125576737-125576750
36	CTCF	chr8:125598114-125598396	GM12878	blood:	n/a	n/a
37	CTCF	chr8:125576540-125576690	GM12870	blood:	n/a	n/a
38	CTCF	chr8:125593260-125593410	GM12872	blood:	n/a	chr8:125593313-125593326
39	CTCF	chr8:125576680-125576830	AG09309	skin:	n/a	chr8:125576737-125576750
40	CTCF	chr8:125576680-125576814	GM10248	blood:	n/a	chr8:125576737-125576750
41	CTCF	chr8:125576660-125576810	HMF	breast:	n/a	chr8:125576737-125576750
42	CTCF	chr8:125576720-125576870	HCM	heart:	n/a	chr8:125576737-125576750
43	CTCF	chr8:125576580-125576730	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr8:125590060-125590210	AG04450	lung:	n/a	chr8:125590142-125590150
45	CTCF	chr8:125576740-125576890	NHLF	lung:	n/a	n/a
46	CTCF	chr8:125598238-125598255	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr8:125576680-125576830	AG10803	skin:	n/a	chr8:125576737-125576750
48	CTCF	chr8:125593253-125593418	IMR90	lung:	n/a	chr8:125593313-125593326
49	CTCF	chr8:125576640-125576790	GM12873	blood:	n/a	chr8:125576737-125576750
50	CTCF	chr8:125576457-125577006	K562	blood:	n/a	chr8:125576737-125576750

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125576109-125576159	HIPEpiC	eye:	n/a
2	chr8:125576109-125576159	ProgFib	skin:	n/a
3	chr8:125576109-125576159	HCM	heart:	n/a
4	chr8:125590232-125590282	HRPEpiC	eye:	n/a
5	chr8:125590232-125590282	HL-60	blood:	n/a
6	chr8:125576109-125576159	NH-A	brain:	n/a
7	chr8:125576109-125576159	ECC-1	luminal epithelium:	n/a
8	chr8:125576109-125576159	HEEpiC	esophagus:	n/a
9	chr8:125590232-125590282	GM12878	blood:	n/a
10	chr8:125590232-125590282	HCT-116	colon:	n/a
11	chr8:125590232-125590282	SK-N-SH_RA	brain:	n/a
12	chr8:125576109-125576159	HCPEpiC	choroid plexus:	n/a
13	chr8:125590232-125590282	U87	brain:	n/a
14	chr8:125590232-125590282	K562	blood:	n/a
15	chr8:125576109-125576159	NHDF-neo	bronchial:	n/a
16	chr8:125576109-125576159	A549	lung:	n/a
17	chr8:125576109-125576159	HMEC	breast:	n/a
18	chr8:125590232-125590282	IMR90	lung:	fetal
19	chr8:125576109-125576159	Caco-2	colon:	n/a
20	chr8:125590232-125590282	NHBE	bronchial:	n/a
21	chr8:125576109-125576159	U87	brain:	n/a
22	chr8:125590232-125590282	GM19239	blood:	n/a
23	chr8:125576109-125576159	HCF	heart:	n/a
24	chr8:125576109-125576159	HCT-116	colon:	n/a
25	chr8:125590232-125590282	CMK	blood:	n/a
26	chr8:125576109-125576159	BJ	skin:	n/a
27	chr8:125590232-125590282	Jurkat	blood:	n/a
28	chr8:125590232-125590282	PFSK-1	brain:	n/a
29	chr8:125590232-125590282	MCF-7	breast:	n/a
30	chr8:125590232-125590282	SKMC	muscle:	n/a
31	chr8:125590232-125590282	Caco-2	colon:	n/a
32	chr8:125590232-125590282	ECC-1	luminal epithelium:	n/a
33	chr8:125590232-125590282	HEK293	kidney:	embryo
34	chr8:125576109-125576159	H1-hESC	embryonic stem cell:	embryo
35	chr8:125590232-125590282	AG10803	skin:	n/a
36	chr8:125576109-125576159	SAEC	small airway:	n/a
37	chr8:125576109-125576159	IMR90	lung:	fetal
38	chr8:125590232-125590282	PrEC	prostate:	n/a
39	chr8:125576109-125576159	HRCEpiC	kidney:	n/a
40	chr8:125590232-125590282	HRE	kidney:	n/a
41	chr8:125590232-125590282	GM12891	blood:	n/a
42	chr8:125590232-125590282	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:125576109-125576159	GM12878	blood:	n/a
44	chr8:125576109-125576159	HEK293	kidney:	embryo
45	chr8:125590232-125590282	ovcar-3	ovarian:	n/a
46	chr8:125590232-125590282	HNPCEpiC	eye:	n/a
47	chr8:125576109-125576159	CMK	blood:	n/a
48	chr8:125590232-125590282	SK-N-MC	brain:	n/a
49	chr8:125576109-125576159	HUVEC	blood vessel:	n/a
50	chr8:125576109-125576159	HepG2	liver:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:125583606..125586217-chr8:125589434..125592977,3	K562	blood:
2	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
3	chr8:125577863..125579836-chr8:125582630..125585102,2	K562	blood:
4	chr8:125575091..125576998-chr8:125587702..125589399,2	MCF-7	breast:
5	chr8:125577041..125579836-chr8:125582630..125585681,3	K562	blood:
6	chr8:125581156..125582907-chr8:125586122..125588546,3	MCF-7	breast:
7	chr8:125577321..125579071-chr8:125580874..125582837,2	MCF-7	breast:
8	chr8:125575006..125577289-chr8:125592864..125594877,2	MCF-7	breast:
9	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
10	chr8:125568544..125569217-chr8:125593002..125594043,3	MCF-7	breast:
11	chr8:125581856..125584794-chr8:125585342..125589064,3	K562	blood:
12	chr8:125581193..125583391-chr8:125607866..125609825,2	MCF-7	breast:
13	chr8:125577012..125578605-chr8:125580687..125582553,2	K562	blood:
14	chr8:125552970..125555595-chr8:125593265..125595640,2	K562	blood:
15	chr8:125549863..125553007-chr8:125584372..125586480,3	MCF-7	breast:
16	chr8:125585583..125587177-chr8:125592083..125594736,2	MCF-7	breast:
17	chr8:125594943..125596479-chr8:126063725..126065231,2	MCF-7	breast:
18	chr8:125548205..125551096-chr8:125575812..125578141,2	MCF-7	breast:
19	chr8:125568770..125569549-chr8:125598029..125598748,2	MCF-7	breast:
20	chr8:125548484..125551295-chr8:125592898..125594487,2	MCF-7	breast:
21	chr8:125592807..125597329-chr8:125826255..125829411,6	K562	blood:
22	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
23	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
24	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:
25	chr8:125581156..125582907-chr8:125586122..125588546,3	MCF-7	breast:
26	chr8:125549873..125552042-chr8:125579435..125582392,2	MCF-7	breast:
27	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
28	chr8:125595344..125598229-chr8:125853392..125854914,2	MCF-7	breast:
29	chr8:125593451..125595490-chr8:125966290..125968595,2	K562	blood:
30	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
31	chr8:125573332..125574424-chr8:125592832..125593703,3	MCF-7	breast:
32	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
33	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
34	chr8:125597468..125600069-chr8:125711742..125713559,2	MCF-7	breast:
35	chr8:125577012..125578605-chr8:125580687..125582553,2	K562	blood:
36	chr8:125577831..125580093-chr8:125580434..125583329,2	MCF-7	breast:
37	chr8:125573775..125576399-chr8:125595466..125597111,2	MCF-7	breast:
38	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
39	chr8:125581043..125582547-chr8:125585061..125587480,2	MCF-7	breast:
40	chr8:125588942..125591890-chr8:125593901..125595656,2	K562	blood:
41	chr8:125575386..125578352-chr8:125584733..125586446,2	MCF-7	breast:
42	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
43	chr8:125577055..125579407-chr8:125587820..125589595,2	MCF-7	breast:
44	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
45	chr8:125577831..125580093-chr8:125580434..125583329,2	MCF-7	breast:
46	chr8:125585583..125587177-chr8:125592083..125594736,2	MCF-7	breast:
47	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
48	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
49	chr8:125581856..125584794-chr8:125585342..125589064,3	K562	blood:
50	chr8:125582029..125582893-chr8:125950029..125951015,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFB9-1	chr8:125591872-125592889	ENSG00000272486.1

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000272486	TF binding region
MTSS1	CpG island
ENSG00000272486	CpG island
ENSG00000255491	chromatin interactions
ENSG00000272486	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000170873	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000147687	chromatin interactions

Extended variants
information (count: 985 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11783209	chr8:125575803-125575804	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539361735	chr8:125575825-125575826	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs558865650	chr8:125575947-125575948	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs184359696	chr8:125575962-125575963	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs146441602	chr8:125575978-125575979	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs190517527	chr8:125576004-125576005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs182263652	chr8:125576017-125576018	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs10099056	chr8:125576082-125576083	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10099060	chr8:125576094-125576095	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185786340	chr8:125576126-125576127	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs528943809	chr8:125576142-125576143	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs546185593	chr8:125576143-125576144	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs370837581	chr8:125576144-125576145	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs559264526	chr8:125576149-125576150	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs550904363	chr8:125576184-125576185	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs373162010	chr8:125576185-125576186	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs529795036	chr8:125576189-125576190	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs373504576	chr8:125576214-125576215	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs139867272	chr8:125576228-125576229	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs376033190	chr8:125576287-125576288	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs142908389	chr8:125576347-125576348	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs190688261	chr8:125576358-125576359	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs550319451	chr8:125576365-125576366	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs574540011	chr8:125576371-125576372	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs57897740	chr8:125576392-125576393	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs181166572	chr8:125576461-125576462	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs185316798	chr8:125576491-125576492	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs145051949	chr8:125576580-125576581	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs546593809	chr8:125576589-125576590	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs549873987	chr8:125576615-125576616	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs566793910	chr8:125576671-125576672	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs17299208	chr8:125576681-125576682	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs555042314	chr8:125576687-125576688	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs558922078	chr8:125576707-125576708	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs201924745	chr8:125576759-125576760	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs190125891	chr8:125576760-125576761	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs151093701	chr8:125576791-125576792	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs182711097	chr8:125576821-125576822	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs79501219	chr8:125576882-125576883	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs372411002	chr8:125576928-125576929	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs3221025	chr8:125576929-125576930	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs546408199	chr8:125576931-125576932	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs371724397	chr8:125576932-125576933	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs56708127	chr8:125576960-125576961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs13255599	chr8:125576963-125576964	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187642311	chr8:125576985-125576986	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs573243430	chr8:125577012-125577013	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs13256399	chr8:125577050-125577051	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370385749	chr8:125577066-125577067	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs561351222	chr8:125577080-125577081	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
2	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
4	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
6	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood
7	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
8	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125566400-125577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:125566400-125577800	Weak transcription	Small Intestine	intestine
11	chr8:125566400-125600600	Weak transcription	NHEK	skin
12	chr8:125566600-125576400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:125566600-125577200	Weak transcription	Osteobl	bone
14	chr8:125566800-125581400	Weak transcription	HSMM	muscle
15	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
16	chr8:125567200-125576200	Weak transcription	Fetal Heart	heart
17	chr8:125568200-125577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:125568600-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:125568800-125576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:125572000-125577000	Weak transcription	NHLF	lung
24	chr8:125572400-125576400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:125574200-125576000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:125574200-125576000	Weak transcription	Colonic Mucosa	Colon
27	chr8:125574200-125576000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr8:125574200-125576200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:125574200-125577200	Enhancers	Psoas Muscle	Psoas
30	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:125574800-125576000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:125574800-125580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:125574800-125581000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:125574800-125590200	Weak transcription	HMEC	breast
35	chr8:125575000-125576000	Enhancers	Fetal Lung	lung
36	chr8:125575000-125576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:125575000-125576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:125575000-125576400	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr8:125575000-125576400	Enhancers	Pancreas	Pancrea
40	chr8:125575000-125576600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr8:125575000-125576600	Enhancers	Right Atrium	heart
42	chr8:125575200-125576000	Enhancers	Thymus	Thymus
43	chr8:125575200-125576200	Enhancers	Fetal Thymus	thymus
44	chr8:125575200-125576400	Enhancers	Primary hematopoietic stem cells	blood
45	chr8:125575200-125576400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:125575200-125576400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:125575200-125576600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:125575200-125576600	Genic enhancers	HepG2	liver
49	chr8:125575200-125576800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:125575200-125576800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links