Variant report

Variant	rs4873427
Chromosome Location	chr8:51125536-51125537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1000638	0.80[ASN][1000 genomes]
rs1000639	0.80[ASN][1000 genomes]
rs10094935	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10096871	0.83[ASN][1000 genomes]
rs10098057	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10108468	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10504094	0.80[ASN][1000 genomes]
rs10504096	0.84[ASN][1000 genomes]
rs10504098	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504099	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10957813	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957814	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957826	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10957853	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775978	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778998	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11780070	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781981	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11786703	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11989367	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11991940	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056425	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056426	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542067	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544631	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12545263	0.84[ASN][1000 genomes]
rs12545365	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545915	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12677522	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12677964	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679317	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12679356	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13251587	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13271983	0.83[ASN][1000 genomes]
rs13277538	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1450127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149992	0.82[ASN][1000 genomes]
rs1597428	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1597429	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1597430	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1597431	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16914376	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16914459	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17758599	0.88[ASN][1000 genomes]
rs1901050	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1903311	0.84[ASN][1000 genomes]
rs203612	0.89[ASN][1000 genomes]
rs203616	0.89[ASN][1000 genomes]
rs203621	0.90[ASN][1000 genomes]
rs203623	0.89[ASN][1000 genomes]
rs203624	0.93[ASN][1000 genomes]
rs203626	0.89[ASN][1000 genomes]
rs203632	0.91[ASN][1000 genomes]
rs203908	0.86[ASN][1000 genomes]
rs203928	0.85[ASN][1000 genomes]
rs203932	0.89[ASN][1000 genomes]
rs203933	0.89[ASN][1000 genomes]
rs203935	0.86[ASN][1000 genomes]
rs203936	0.89[ASN][1000 genomes]
rs203937	0.86[ASN][1000 genomes]
rs203938	0.86[ASN][1000 genomes]
rs203939	0.89[ASN][1000 genomes]
rs203940	0.86[ASN][1000 genomes]
rs203947	0.88[ASN][1000 genomes]
rs203949	0.85[ASN][1000 genomes]
rs203960	0.89[ASN][1000 genomes]
rs2084589	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2084590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510664	0.81[EUR][1000 genomes]
rs34047312	0.84[ASN][1000 genomes]
rs34217744	0.85[EUR][1000 genomes]
rs34641787	0.84[ASN][1000 genomes]
rs34722367	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34788367	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34908431	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34997857	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35516514	0.85[EUR][1000 genomes]
rs35857674	0.81[EUR][1000 genomes]
rs35989044	0.80[ASN][1000 genomes]
rs36006902	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420489	0.89[ASN][1000 genomes]
rs4448283	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4448284	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873126	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873127	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873128	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873129	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873134	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873141	0.81[EUR][1000 genomes]
rs4873405	0.86[ASN][1000 genomes]
rs4873406	0.84[ASN][1000 genomes]
rs4873407	0.84[ASN][1000 genomes]
rs4873408	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873412	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873413	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873414	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873415	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873416	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873417	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873418	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873419	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873420	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873421	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873438	0.83[EUR][1000 genomes]
rs4873439	0.83[EUR][1000 genomes]
rs56007637	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56725	0.89[ASN][1000 genomes]
rs62515375	0.89[ASN][1000 genomes]
rs62516672	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62516685	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62516687	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6472947	0.89[ASN][1000 genomes]
rs6983498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986896	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6988843	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991753	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6996646	0.83[ASN][1000 genomes]
rs7000325	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7001686	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002235	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7010037	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013995	0.82[ASN][1000 genomes]
rs7016161	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018082	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs721441	0.83[ASN][1000 genomes]
rs7386487	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464491	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7817040	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820951	0.83[ASN][1000 genomes]
rs7821189	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7824938	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825053	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825063	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870754	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs884561	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs898520	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298295	0.82[EUR][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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv8341	chr8:51123911-51130847	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51124000-51125800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:51124800-51125800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51124800-51126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:51125000-51125600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:51125000-51125600	Enhancers	Brain Anterior Caudate	brain
6	chr8:51125000-51125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:51125000-51125800	Enhancers	Brain Germinal Matrix	brain
8	chr8:51125000-51126000	Enhancers	Osteobl	bone
9	chr8:51125400-51125800	Enhancers	Fetal Lung	lung

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