Variant report

Variant	rs6871995
Chromosome Location	chr5:112696052-112696053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10035293	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10037836	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10037845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10038504	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043783	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10043834	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10044201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs10051109	1.00[CEU][hapmap]
rs10052747	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10053052	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053157	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053622	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10055327	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056104	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10057000	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10057264	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057372	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10060179	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10066163	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070825	0.80[EUR][1000 genomes]
rs10070884	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10070990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10074346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10077020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10078576	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10477492	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477493	0.85[EUR][1000 genomes]
rs10477494	0.85[EUR][1000 genomes]
rs10478121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478123	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478124	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519344	1.00[CEU][hapmap]
rs11952758	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953401	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954016	1.00[CEU][hapmap]
rs11954410	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11958613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11958734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11960559	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12108831	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13354840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355687	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13358111	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361059	1.00[CHB][hapmap]
rs13361060	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13362158	1.00[CEU][hapmap]
rs17135465	0.80[EUR][1000 genomes]
rs17135568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17135570	1.00[CHB][hapmap]
rs17135586	0.87[ASN][1000 genomes]
rs17135601	0.87[ASN][1000 genomes]
rs17135607	0.87[ASN][1000 genomes]
rs17135615	0.87[ASN][1000 genomes]
rs17135618	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882620	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2068922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2222145	0.87[ASN][1000 genomes]
rs28566618	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28714108	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28793421	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2900070	0.85[ASN][1000 genomes]
rs34893422	0.80[EUR][1000 genomes]
rs34936289	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35724644	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842916	0.90[ASN][1000 genomes]
rs3843500	0.80[ASN][1000 genomes]
rs3843501	0.93[ASN][1000 genomes]
rs3857436	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41459745	1.00[ASN][1000 genomes]
rs55912732	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081130	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56090613	0.85[ASN][1000 genomes]
rs59211196	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868620	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6874313	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6879177	0.80[EUR][1000 genomes]
rs6879370	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779003	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779004	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779005	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779006	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7705430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705568	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709433	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7709550	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7709818	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7715071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719254	0.83[ASN][1000 genomes]
rs7722421	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726631	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735806	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9326882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9326883	1.00[CEU][hapmap];1.00[CHB][hapmap]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112682000-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112690200-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112694800-112700000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:112695200-112700000	Weak transcription	Fetal Stomach	stomach
5	chr5:112695200-112700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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