Variant report

Variant	rs2450580
Chromosome Location	chr8:95363776-95363777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10109060	0.86[EUR][1000 genomes]
rs1379246	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580498	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1598713	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1813167	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2046665	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2046666	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2246066	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2256748	0.85[AFR][1000 genomes]
rs2291439	0.80[CEU][hapmap]
rs2445699	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445700	0.83[AFR][1000 genomes]
rs2445703	0.89[AFR][1000 genomes]
rs2445721	0.89[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445728	0.90[EUR][1000 genomes]
rs2445729	0.85[AFR][1000 genomes]
rs2445730	0.85[AFR][1000 genomes]
rs2445731	0.85[AFR][1000 genomes]
rs2448919	0.85[AFR][1000 genomes]
rs2450554	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2450556	0.90[EUR][1000 genomes]
rs2450558	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450572	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450578	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470714	0.85[AFR][1000 genomes]
rs2470715	0.85[AFR][1000 genomes]
rs2470716	0.85[AFR][1000 genomes]
rs2470718	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470728	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470731	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470732	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470735	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470739	0.88[CEU][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470740	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470742	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470746	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515098	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515099	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515100	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515123	0.84[AFR][1000 genomes]
rs2515124	0.85[AFR][1000 genomes]
rs2515153	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515154	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515155	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515156	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515157	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515161	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515165	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515167	0.89[AFR][1000 genomes]
rs2919654	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs2919663	0.83[ASN][1000 genomes]
rs2919665	0.83[ASN][1000 genomes]
rs2919666	0.83[ASN][1000 genomes]
rs2921385	0.84[CEU][hapmap]
rs2921387	0.81[CEU][hapmap]
rs2921388	0.87[ASN][1000 genomes]
rs2930959	0.83[ASN][1000 genomes]
rs2930967	0.84[CEU][hapmap];0.83[ASN][1000 genomes]
rs3098703	0.82[ASN][1000 genomes]
rs3099398	0.84[CEU][hapmap];0.82[ASN][1000 genomes]
rs3099401	0.81[ASN][1000 genomes]
rs4735288	0.86[EUR][1000 genomes]
rs67639046	0.85[EUR][1000 genomes]
rs6997115	0.86[EUR][1000 genomes]
rs71504369	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824722	0.82[EUR][1000 genomes]
rs7831073	0.85[EUR][1000 genomes]
rs935052	0.84[CEU][hapmap]
rs981616	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95355800-95365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:95355800-95365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:95360800-95365600	Weak transcription	A549	lung
4	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
5	chr8:95363400-95364200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:95363600-95364200	Enhancers	NHDF-Ad	bronchial

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