Variant report

Variant	rs12549310
Chromosome Location	chr8:34851374-34851375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10086170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10090404	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10093451	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103839	0.99[ASN][1000 genomes]
rs10105027	0.91[ASN][1000 genomes]
rs10106900	0.96[ASN][1000 genomes]
rs10110471	0.92[ASN][1000 genomes]
rs10503971	0.97[ASN][1000 genomes]
rs10755891	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10755892	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10954972	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989408	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992561	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995706	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541698	0.92[ASN][1000 genomes]
rs12542358	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12544302	0.90[ASN][1000 genomes]
rs12546149	0.99[ASN][1000 genomes]
rs12548710	0.99[ASN][1000 genomes]
rs13439850	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16883300	0.99[ASN][1000 genomes]
rs16883302	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883372	0.97[ASN][1000 genomes]
rs16883443	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987259	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28575744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28693643	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4237081	0.94[ASN][1000 genomes]
rs4313151	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4361759	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422767	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4474016	0.99[ASN][1000 genomes]
rs4474017	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484690	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4487759	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503095	0.96[ASN][1000 genomes]
rs4513972	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520153	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4521752	0.98[ASN][1000 genomes]
rs4551351	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4557701	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4590438	0.97[ASN][1000 genomes]
rs4604426	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607607	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4631463	0.97[ASN][1000 genomes]
rs4636203	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739292	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4739378	0.84[ASN][1000 genomes]
rs4739383	0.99[ASN][1000 genomes]
rs4739384	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739385	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739386	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739387	0.97[ASN][1000 genomes]
rs55780858	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56065315	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56238024	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57260519	0.94[ASN][1000 genomes]
rs58253719	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58943573	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59565914	0.94[ASN][1000 genomes]
rs59781721	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60954213	0.97[ASN][1000 genomes]
rs61144179	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6468297	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468298	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468299	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468300	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982801	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983798	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989491	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995319	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6996639	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998588	0.94[ASN][1000 genomes]
rs7000626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002561	0.94[ASN][1000 genomes]
rs7005848	0.99[ASN][1000 genomes]
rs7009820	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014169	0.97[ASN][1000 genomes]
rs73671417	0.97[ASN][1000 genomes]
rs73671420	0.98[ASN][1000 genomes]
rs7819172	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819315	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819466	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820772	0.97[ASN][1000 genomes]
rs7821357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831249	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831645	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832238	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841333	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9656770	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2764070	chr8:34832017-34857556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv2761231	chr8:34838312-34854498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv428515	chr8:34849097-34862729	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34844400-34853200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:34844400-34857400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:34851000-34852800	Enhancers	HMEC	breast
4	chr8:34851000-34853000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:34851200-34851600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:34851200-34852000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:34851200-34852200	Enhancers	NHEK	skin

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