Variant report

Variant	rs7519903
Chromosome Location	chr1:47570517-47570518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47565566..47567754-chr1:47569230..47571813,3	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10789500	0.89[EUR][1000 genomes]
rs10789501	0.84[EUR][1000 genomes]
rs10890446	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890447	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10890452	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10890453	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10890454	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10890455	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10890456	0.89[EUR][1000 genomes]
rs10890458	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10890459	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10890460	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890462	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10890464	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10890465	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10890466	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10890467	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10890468	0.89[EUR][1000 genomes]
rs10890470	0.80[EUR][1000 genomes]
rs1110425	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117514	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211421	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11211423	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11211435	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11211439	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211442	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211444	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11211449	0.82[AFR][1000 genomes]
rs11211450	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211454	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11211455	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11211456	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211457	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11211458	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11211459	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11211463	0.87[EUR][1000 genomes]
rs11211464	0.92[EUR][1000 genomes]
rs11211471	0.82[EUR][1000 genomes]
rs11211472	0.83[EUR][1000 genomes]
rs12022635	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12037014	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12042073	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12046348	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12046525	0.88[EUR][1000 genomes]
rs12124648	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12564635	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734327	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736235	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1393659	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1393667	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1847221	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1847222	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1847223	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1847224	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1967756	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1967757	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134471	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2202219	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2208772	0.89[EUR][1000 genomes]
rs2224622	0.80[EUR][1000 genomes]
rs2405580	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2798352	0.82[EUR][1000 genomes]
rs2798356	0.81[EUR][1000 genomes]
rs28462300	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28463559	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28723590	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28796303	0.80[EUR][1000 genomes]
rs3117713	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850876	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4314923	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375314	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4492665	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4598535	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4926773	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4926777	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4926785	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926786	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926787	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926788	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926789	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926791	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926793	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926797	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926802	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4926804	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926805	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4926806	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4926807	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4926808	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4926809	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926826	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926869	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4926918	0.81[EUR][1000 genomes]
rs6588388	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6588389	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6664392	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6664496	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6669621	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6669799	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6675902	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683137	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6690005	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693145	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701611	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704068	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7512729	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522639	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7526674	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7540264	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7545399	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7547893	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs760440	0.80[EUR][1000 genomes]
rs760441	0.86[EUR][1000 genomes]
rs760442	0.84[EUR][1000 genomes]
rs911903	0.86[EUR][1000 genomes]
rs911909	0.82[EUR][1000 genomes]
rs9326153	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9633421	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9659815	0.81[AMR][1000 genomes]
rs9699932	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9701154	0.82[AMR][1000 genomes]
rs9701868	0.84[EUR][1000 genomes]
rs9701886	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9701899	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9728169	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9729662	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9793471	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9793711	0.82[AMR][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	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv13964	chr1:47565590-47574182	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	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	chr1:47557800-47573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:47570200-47570600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47570200-47570800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:47570200-47570800	Enhancers	NHEK	skin
5	chr1:47570400-47570600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:47570400-47571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:47570400-47571000	Enhancers	HMEC	breast

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