Variant report

Variant	rs1519657
Chromosome Location	chr2:101116908-101116909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101115436..101117152-chr2:101126937..101128527,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10166130	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10166286	0.92[ASN][1000 genomes]
rs10166865	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs10175632	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs10180172	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10183360	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184491	0.91[CHB][hapmap]
rs10185111	0.91[CHB][hapmap]
rs10188492	0.80[ASN][1000 genomes]
rs10191625	0.81[ASN][1000 genomes]
rs10195487	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195721	0.82[ASN][1000 genomes]
rs10195943	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10199745	0.91[CHB][hapmap]
rs10199753	0.91[CHB][hapmap]
rs10210508	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10865040	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884644	0.81[EUR][1000 genomes]
rs11884976	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs11891670	0.87[CHB][hapmap]
rs11892956	0.82[EUR][1000 genomes]
rs11898188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12464855	0.87[CHB][hapmap]
rs12466753	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12469068	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12475281	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12475282	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12616637	0.80[ASN][1000 genomes]
rs12617044	0.80[ASN][1000 genomes]
rs12618805	0.80[ASN][1000 genomes]
rs12623030	0.80[ASN][1000 genomes]
rs13383447	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13383638	0.80[ASN][1000 genomes]
rs13384858	0.85[ASN][1000 genomes]
rs13385681	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs13385933	0.80[ASN][1000 genomes]
rs13386458	0.80[ASN][1000 genomes]
rs13388529	0.82[EUR][1000 genomes]
rs13389527	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13392115	0.92[ASN][1000 genomes]
rs13393776	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13395802	0.80[ASN][1000 genomes]
rs13398154	0.80[ASN][1000 genomes]
rs13398539	0.80[ASN][1000 genomes]
rs13399092	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13400036	0.80[ASN][1000 genomes]
rs13408862	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13411524	0.80[ASN][1000 genomes]
rs13411940	0.82[EUR][1000 genomes]
rs13412463	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13413040	0.81[ASN][1000 genomes]
rs13414632	0.82[EUR][1000 genomes]
rs13414838	0.82[EUR][1000 genomes]
rs13415591	0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs13416457	0.83[ASN][1000 genomes]
rs13419111	0.80[ASN][1000 genomes]
rs13420383	0.91[CHB][hapmap]
rs13421353	0.83[EUR][1000 genomes]
rs13425866	0.81[ASN][1000 genomes]
rs13427911	0.80[ASN][1000 genomes]
rs13427972	0.81[EUR][1000 genomes]
rs13428749	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13430275	0.81[ASN][1000 genomes]
rs13430695	0.82[EUR][1000 genomes]
rs1437968	0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1437974	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1437977	0.80[ASN][1000 genomes]
rs1519656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024335	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs17024409	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17024441	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2309858	0.81[EUR][1000 genomes]
rs2309859	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs2309861	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2309862	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs2309863	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2309864	0.91[CHB][hapmap]
rs2871352	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs4366926	0.80[ASN][1000 genomes]
rs4368352	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4549109	0.80[ASN][1000 genomes]
rs4581914	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs4589783	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4630791	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs4632365	0.82[EUR][1000 genomes]
rs4633941	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs55963083	0.81[ASN][1000 genomes]
rs56402605	0.80[ASN][1000 genomes]
rs57179311	0.80[ASN][1000 genomes]
rs60453957	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60572723	0.80[ASN][1000 genomes]
rs61530065	0.80[ASN][1000 genomes]
rs6542954	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542955	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542956	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542960	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542965	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6722896	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731045	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6732569	0.86[CHB][hapmap]
rs6735337	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745117	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6747630	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6755846	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760452	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs750033	0.82[EUR][1000 genomes]
rs7561811	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7565675	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7568283	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7568519	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7576144	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7578352	0.82[EUR][1000 genomes]
rs7592840	0.82[EUR][1000 genomes]
rs7593928	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7596439	0.91[CHB][hapmap]
rs7596851	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs7599321	0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs7605662	0.91[CHB][hapmap]
rs7606473	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869840	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9308837	0.82[EUR][1000 genomes]
rs9653443	0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9653444	0.82[ASN][1000 genomes]
rs9653463	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101116600-101117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:101116800-101117000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:101116800-101117200	Enhancers	H9 Cell Line	embryonic stem cell

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