Variant report

Variant	rs6947809
Chromosome Location	chr7:10841622-10841623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:10837164..10840989-chr7:10841354..10845729,6	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10230225	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230296	0.88[ASN][1000 genomes]
rs10233178	0.92[ASN][1000 genomes]
rs10235207	0.88[ASN][1000 genomes]
rs10238503	0.94[ASN][1000 genomes]
rs10241830	0.94[ASN][1000 genomes]
rs10250526	0.88[ASN][1000 genomes]
rs10258847	0.87[ASN][1000 genomes]
rs10259141	0.87[ASN][1000 genomes]
rs10264572	0.89[ASN][1000 genomes]
rs10268146	0.94[ASN][1000 genomes]
rs10268469	0.88[ASN][1000 genomes]
rs10272459	0.89[ASN][1000 genomes]
rs10274493	0.80[ASN][1000 genomes]
rs10276033	0.86[ASN][1000 genomes]
rs10276038	0.89[ASN][1000 genomes]
rs10278489	0.92[ASN][1000 genomes]
rs10486094	0.84[ASN][1000 genomes]
rs10486096	0.84[ASN][1000 genomes]
rs10486100	0.91[ASN][1000 genomes]
rs10950313	0.84[ASN][1000 genomes]
rs10950314	0.84[ASN][1000 genomes]
rs11971102	0.84[ASN][1000 genomes]
rs11976168	0.84[ASN][1000 genomes]
rs11978409	0.82[ASN][1000 genomes]
rs12671358	0.89[ASN][1000 genomes]
rs12671384	0.89[ASN][1000 genomes]
rs17163474	0.82[ASN][1000 genomes]
rs17163529	0.84[ASN][1000 genomes]
rs17163540	0.85[ASN][1000 genomes]
rs2189534	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2189538	0.83[ASN][1000 genomes]
rs2189539	0.84[ASN][1000 genomes]
rs2189543	0.83[ASN][1000 genomes]
rs28681162	0.95[ASN][1000 genomes]
rs4289707	0.84[ASN][1000 genomes]
rs56137539	0.91[ASN][1000 genomes]
rs57599855	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59864617	0.81[ASN][1000 genomes]
rs62454232	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62454237	0.95[ASN][1000 genomes]
rs6460748	0.89[ASN][1000 genomes]
rs6944034	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6944274	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944330	0.89[ASN][1000 genomes]
rs6948792	0.85[ASN][1000 genomes]
rs6950230	0.85[CEU][hapmap];0.94[ASN][1000 genomes]
rs6961358	0.89[ASN][1000 genomes]
rs6961857	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971463	0.93[ASN][1000 genomes]
rs6978101	0.94[ASN][1000 genomes]
rs6978956	0.81[ASN][1000 genomes]
rs73678140	0.85[ASN][1000 genomes]
rs73678141	0.85[ASN][1000 genomes]
rs73678142	0.84[ASN][1000 genomes]
rs73678143	0.84[ASN][1000 genomes]
rs73678145	0.87[ASN][1000 genomes]
rs73678147	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73678149	0.89[ASN][1000 genomes]
rs73680912	0.84[ASN][1000 genomes]
rs739889	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739890	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739891	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787685	0.84[ASN][1000 genomes]
rs7788250	0.84[ASN][1000 genomes]
rs7795776	0.87[ASN][1000 genomes]
rs7809961	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887596	chr7:10493399-10852392	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv2752139	chr7:10798492-10954219	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr7:10838200-10842400	Weak transcription	K562	blood
2	chr7:10841400-10843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:10841400-10843200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:10841400-10843200	Enhancers	HMEC	breast
5	chr7:10841400-10843200	Enhancers	NHEK	skin
6	chr7:10841600-10842800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:10841600-10843000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:10841600-10843000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:10841600-10843000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:10841600-10843000	Enhancers	NH-A	brain
11	chr7:10841600-10843000	Enhancers	Osteobl	bone

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