Variant report

Variant	rs7815435
Chromosome Location	chr8:11403368-11403369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:11402849-11404250	GM12878	blood:	n/a	n/a
2	RFX5	chr8:11403261-11403739	GM12878	blood:	n/a	n/a
3	CUX1	chr8:11403086-11404064	GM12878	blood:	n/a	n/a
4	FOXM1	chr8:11402937-11404249	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11403251-11404162	GM12891	blood:	n/a	n/a
6	POLR2A	chr8:11403211-11403774	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:11403251-11403683	GM12891	blood:	n/a	n/a
8	POLR2A	chr8:11403147-11408714	GM12878	blood:	n/a	n/a
9	RELA	chr8:11403052-11404101	GM12878	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
10	TCF12	chr8:11403179-11403824	GM12878	blood:	n/a	n/a
11	EP300	chr8:11403164-11403679	GM12878	blood:	n/a	chr8:11403421-11403437
12	IRF4	chr8:11403038-11404264	GM12878	blood:	n/a	n/a
13	BATF	chr8:11403194-11403693	GM12878	blood:	n/a	n/a
14	PML	chr8:11402844-11404876	GM12878	blood:	n/a	n/a
15	USF2	chr8:11403366-11403767	GM12878	blood:	n/a	n/a
16	EGR1	chr8:11403239-11403737	GM12878	blood:	n/a	chr8:11403509-11403519 chr8:11403508-11403521 chr8:11403510-11403519 chr8:11403508-11403521 chr8:11403509-11403519 chr8:11403509-11403520 chr8:11403508-11403521 chr8:11403503-11403525 chr8:11403420-11403430 chr8:11403508-11403521 chr8:11403507-11403521 chr8:11403509-11403518 chr8:11403509-11403520 chr8:11403507-11403522
17	TBL1XR1	chr8:11403048-11404188	GM12878	blood:	n/a	n/a
18	NFATC1	chr8:11403009-11404256	GM12878	blood:	n/a	n/a
19	ZEB1	chr8:11403199-11403877	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11403240-11403718	Raji	blood:	n/a	n/a
21	RELA	chr8:11403090-11404073	GM12892	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
22	NRF1	chr8:11403209-11403673	GM12878	blood:	n/a	n/a
23	CHD1	chr8:11403089-11403898	GM12878	blood:	n/a	n/a
24	EGR1	chr8:11403269-11403649	GM12878	blood:	n/a	chr8:11403509-11403519 chr8:11403508-11403521 chr8:11403510-11403519 chr8:11403508-11403521 chr8:11403509-11403519 chr8:11403509-11403520 chr8:11403508-11403521 chr8:11403503-11403525 chr8:11403420-11403430 chr8:11403508-11403521 chr8:11403507-11403521 chr8:11403509-11403518 chr8:11403509-11403520 chr8:11403507-11403522
25	CTCF	chr8:11403338-11403396	GM19239	blood:	n/a	chr8:11403358-11403371
26	IRF4	chr8:11403082-11404244	GM12878	blood:	n/a	n/a
27	PAX5	chr8:11403199-11403695	GM12878	blood:	n/a	n/a
28	EGR1	chr8:11403221-11403645	GM12878	blood:	n/a	chr8:11403509-11403519 chr8:11403508-11403521 chr8:11403510-11403519 chr8:11403508-11403521 chr8:11403509-11403519 chr8:11403509-11403520 chr8:11403508-11403521 chr8:11403503-11403525 chr8:11403420-11403430 chr8:11403508-11403521 chr8:11403507-11403521 chr8:11403509-11403518 chr8:11403509-11403520 chr8:11403507-11403522
29	POLR2A	chr8:11403091-11404179	GM12892	blood:	n/a	n/a
30	RELA	chr8:11403098-11404085	GM19099	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
31	BCL3	chr8:11403124-11403747	GM12878	blood:	n/a	chr8:11403287-11403296
32	EP300	chr8:11403065-11404195	GM12878	blood:	n/a	chr8:11403421-11403437 chr8:11403855-11403869
33	PBX3	chr8:11403199-11403440	GM12878	blood:	n/a	n/a
34	MAX	chr8:11403220-11404161	GM12878	blood:	n/a	chr8:11403364-11403374
35	YY1	chr8:11403118-11403704	GM12878	blood:	n/a	n/a
36	YY1	chr8:11403201-11403665	GM12892	blood:	n/a	n/a
37	POU2F2	chr8:11403191-11404199	GM12891	blood:	n/a	chr8:11403358-11403370
38	BCL11A	chr8:11403188-11403628	GM12878	blood:	n/a	chr8:11403287-11403296
39	EBF1	chr8:11403144-11404260	GM12878	blood:	n/a	chr8:11403459-11403468
40	STAT1	chr8:11403203-11403632	GM12878	blood:	n/a	n/a
41	SIN3A	chr8:11403261-11403873	GM12878	blood:	n/a	chr8:11403358-11403369
42	BCL11A	chr8:11403087-11403748	GM12878	blood:	n/a	chr8:11403287-11403296
43	RUNX3	chr8:11402864-11404319	GM12878	blood:	n/a	n/a
44	SP1	chr8:11403086-11404272	GM12878	blood:	n/a	chr8:11403506-11403516 chr8:11403363-11403375 chr8:11403364-11403373 chr8:11403506-11403516 chr8:11403360-11403373 chr8:11403363-11403375 chr8:11404059-11404069 chr8:11403360-11403374 chr8:11403505-11403517
45	BCLAF1	chr8:11402954-11403779	GM12878	blood:	n/a	chr8:11403287-11403296
46	NFE2	chr8:11403297-11403392	GM12878	blood:	n/a	n/a
47	PAX5	chr8:11403188-11403677	GM12878	blood:	n/a	n/a
48	BRCA1	chr8:11403337-11403620	GM12878	blood:	n/a	n/a
49	POU2F2	chr8:11403244-11403419	GM12878	blood:	n/a	chr8:11403358-11403370
50	PML	chr8:11403067-11403622	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11998211	1.00[EUR][1000 genomes]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57586616	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:11400400-11404800	Weak transcription	Spleen	Spleen
4	chr8:11401200-11406400	Weak transcription	HUVEC	blood vessel
5	chr8:11402400-11403600	Enhancers	Primary B cells from cord blood	blood
6	chr8:11402400-11404000	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:11403200-11403600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:11403200-11404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11403200-11404000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr8:11403200-11404000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:11403200-11404800	Enhancers	HSMM	muscle

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