Variant report

Variant	rs7957859
Chromosome Location	chr12:44720874-44720875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10082784	0.88[ASN][1000 genomes]
rs10506246	0.96[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10506247	0.92[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs10736020	0.82[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10748396	0.90[ASN][1000 genomes]
rs1098498	0.96[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1520838	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1527318	0.96[CEU][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1527319	0.88[CEU][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1527320	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1726886	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1798021	0.96[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2220726	0.96[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2897810	0.89[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300557	0.82[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7307771	0.96[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7313324	0.92[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs840771	0.96[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs840773	0.85[YRI][hapmap]
rs841068	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs863482	1.00[YRI][hapmap]
rs9738577	0.96[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9739776	0.89[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
2	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
3	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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