Variant report

Variant	rs6944741
Chromosome Location	chr7:11217384-11217385
allele	C/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	CCNT2	chr7:11217186-11217420	K562	blood:	n/a	n/a
2	EP300	chr7:11216268-11217680	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10234187	0.90[GIH][hapmap]
rs10234395	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10236024	0.92[CHB][hapmap]
rs10245627	0.84[EUR][1000 genomes]
rs10246100	0.98[ASN][1000 genomes]
rs10251095	0.92[CHB][hapmap]
rs10251185	0.92[CHB][hapmap]
rs10255688	0.92[CHB][hapmap]
rs10499381	0.85[GIH][hapmap]
rs1057436	0.92[CHB][hapmap]
rs1154922	0.92[CHB][hapmap]
rs11560245	0.92[CHB][hapmap]
rs11978518	0.92[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs12112674	0.92[CHB][hapmap]
rs12699172	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs13222039	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227933	0.90[CHB][hapmap]
rs13238887	0.92[CHB][hapmap]
rs13241511	0.92[CHB][hapmap]
rs1483201	0.92[CHB][hapmap]
rs1483203	0.91[CHB][hapmap]
rs1547945	0.92[CHB][hapmap]
rs1636753	0.83[CHB][hapmap]
rs1681284	0.83[CHB][hapmap]
rs1681291	0.80[JPT][hapmap]
rs1681302	0.92[CHB][hapmap]
rs1681310	0.92[CHB][hapmap]
rs2108111	0.92[CHB][hapmap]
rs220090	0.82[CHB][hapmap]
rs2214858	0.92[CHB][hapmap]
rs2906543	0.92[CHB][hapmap]
rs2906544	0.92[CHB][hapmap]
rs2906545	0.92[CHB][hapmap]
rs2906548	0.92[CHB][hapmap]
rs2906550	0.90[CHB][hapmap]
rs2906551	0.92[CHB][hapmap]
rs2906552	0.92[CHB][hapmap]
rs2906553	0.92[CHB][hapmap]
rs2906555	0.92[CHB][hapmap]
rs2906556	1.00[CHB][hapmap]
rs2906558	0.81[CHB][hapmap]
rs2906560	0.92[CHB][hapmap]
rs2906565	0.92[CHB][hapmap]
rs2995878	0.92[CHB][hapmap]
rs2995879	0.92[CHB][hapmap]
rs2995880	0.92[CHB][hapmap]
rs2995881	0.92[CHB][hapmap]
rs2995884	0.92[CHB][hapmap]
rs2995898	0.92[CHB][hapmap]
rs2995903	0.92[CHB][hapmap]
rs3801437	0.92[CHB][hapmap]
rs3801453	0.92[CHB][hapmap]
rs3823875	0.92[CHB][hapmap]
rs4314555	0.92[CHB][hapmap]
rs4644135	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs4719258	0.92[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4719260	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4720938	0.92[CHB][hapmap]
rs4720944	0.93[ASN][1000 genomes]
rs4720945	0.91[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap]
rs4720946	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6460785	0.92[CHB][hapmap]
rs6460789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6460790	0.97[ASN][1000 genomes]
rs6951444	0.91[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6953287	0.97[ASN][1000 genomes]
rs6953496	0.95[ASN][1000 genomes]
rs6954805	0.92[CHB][hapmap]
rs6957940	0.92[CHB][hapmap]
rs6966809	0.93[ASN][1000 genomes]
rs6971457	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7785008	0.92[CHB][hapmap]
rs7786922	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7790383	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs7791995	0.92[CHB][hapmap]
rs7798427	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7806840	0.90[CHB][hapmap]
rs9638668	0.98[ASN][1000 genomes]
rs9986755	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv606196	chr7:11144030-11255948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv1029654	chr7:11147593-11263834	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv538731	chr7:11147593-11263834	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv523279	chr7:11198193-11473561	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv518180	chr7:11198193-11475819	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv1015837	chr7:11208733-11475112	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv538732	chr7:11208733-11475112	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv2763619	chr7:11210275-11218986	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	nsv971548	chr7:11212186-11217961	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:11207000-11226000	Weak transcription	Gastric	stomach
4	chr7:11217200-11217800	Enhancers	Osteobl	bone
5	chr7:11217200-11218000	Enhancers	Muscle Satellite Cultured Cells	--

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