Variant report

Variant	rs10951991
Chromosome Location	chr7:6721661-6721662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6716360..6719322-chr7:6721448..6722993,2	K562	blood:
2	chr7:6645170..6647656-chr7:6721647..6723270,2	K562	blood:
3	chr7:6720927..6724330-chr7:6736281..6739215,3	K562	blood:
4	chr7:6720927..6723913-chr7:6737715..6740062,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10244591	0.83[JPT][hapmap]
rs10255119	0.83[EUR][1000 genomes]
rs10271259	0.85[EUR][1000 genomes]
rs10272921	0.83[JPT][hapmap]
rs10951994	0.83[JPT][hapmap]
rs12537448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673800	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13224907	0.83[JPT][hapmap]
rs13247186	0.90[JPT][hapmap]
rs1464922	0.91[EUR][1000 genomes]
rs1464923	0.94[EUR][1000 genomes]
rs2140909	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs2881352	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs3735302	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3757481	0.94[CHB][hapmap]
rs3757483	0.82[EUR][1000 genomes]
rs3801033	0.89[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs3801034	0.81[ASN][1000 genomes]
rs3801036	0.85[ASN][1000 genomes]
rs3801038	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs3801039	0.87[CHB][hapmap]
rs56257118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58569329	0.85[EUR][1000 genomes]
rs58738503	0.83[EUR][1000 genomes]
rs60514449	0.82[EUR][1000 genomes]
rs62439670	0.85[EUR][1000 genomes]
rs62439674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62439695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62439697	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62441324	0.83[EUR][1000 genomes]
rs6463576	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs6463580	0.83[JPT][hapmap]
rs6944332	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs6948691	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6953825	0.83[JPT][hapmap]
rs6954172	0.83[JPT][hapmap]
rs6964079	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6965641	0.94[EUR][1000 genomes]
rs6969066	0.82[EUR][1000 genomes]
rs6971621	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6979127	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs7357087	0.86[ASN][1000 genomes]
rs7779296	0.83[JPT][hapmap]
rs7791734	0.83[ASN][1000 genomes]
rs7798471	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs7804259	0.88[JPT][hapmap]
rs7808550	0.88[EUR][1000 genomes]
rs9639027	0.88[CHB][hapmap];0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv606006	chr7:6659509-6721661	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv1803673	chr7:6671496-6721661	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv1834684	chr7:6671496-6721661	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6712200-6739400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:6714000-6726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:6718600-6742600	ZNF genes & repeats	Liver	Liver
5	chr7:6721400-6724200	ZNF genes & repeats	Brain Anterior Caudate	brain
6	chr7:6721400-6724600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
7	chr7:6721400-6724600	ZNF genes & repeats	A549	lung
8	chr7:6721400-6724800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:6721600-6724400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:6721600-6724800	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr7:6721600-6740800	ZNF genes & repeats	Fetal Brain Female	brain
13	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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