Variant report

Variant	rs62518194
Chromosome Location	chr8:42574376-42574377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10101564	0.90[EUR][1000 genomes]
rs10101973	0.93[EUR][1000 genomes]
rs10104038	0.90[EUR][1000 genomes]
rs10112455	0.93[EUR][1000 genomes]
rs13439675	0.93[EUR][1000 genomes]
rs1451241	0.93[EUR][1000 genomes]
rs1451242	0.90[EUR][1000 genomes]
rs16891521	0.90[EUR][1000 genomes]
rs16891530	0.90[EUR][1000 genomes]
rs28413944	0.90[EUR][1000 genomes]
rs28528998	0.90[EUR][1000 genomes]
rs28616109	0.90[EUR][1000 genomes]
rs28621985	0.90[EUR][1000 genomes]
rs28680472	0.90[EUR][1000 genomes]
rs28809511	0.93[EUR][1000 genomes]
rs28848209	0.90[EUR][1000 genomes]
rs28849085	0.90[EUR][1000 genomes]
rs28850974	0.93[EUR][1000 genomes]
rs4952	1.00[EUR][1000 genomes]
rs4953	1.00[EUR][1000 genomes]
rs55817013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57435730	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57499403	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57521649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58205452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58279443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59521406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59689170	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59705185	0.87[EUR][1000 genomes]
rs60926557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61601101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62515862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515867	1.00[EUR][1000 genomes]
rs62515871	0.90[EUR][1000 genomes]
rs62515872	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62515873	0.90[EUR][1000 genomes]
rs62516708	0.90[EUR][1000 genomes]
rs62516710	0.84[EUR][1000 genomes]
rs62516711	0.90[EUR][1000 genomes]
rs62516713	0.93[EUR][1000 genomes]
rs62516715	0.93[EUR][1000 genomes]
rs62516718	0.93[EUR][1000 genomes]
rs62516719	0.93[EUR][1000 genomes]
rs62516738	0.93[EUR][1000 genomes]
rs62516739	0.93[EUR][1000 genomes]
rs62516740	0.93[EUR][1000 genomes]
rs62516741	0.93[EUR][1000 genomes]
rs62516742	0.93[EUR][1000 genomes]
rs62516743	0.90[EUR][1000 genomes]
rs62516744	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516745	0.93[EUR][1000 genomes]
rs62516746	0.90[EUR][1000 genomes]
rs62516747	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516748	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516750	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516751	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62516759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518180	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518183	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518184	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62518185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518193	1.00[EUR][1000 genomes]
rs62518195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518196	1.00[EUR][1000 genomes]
rs62518197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62518200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518201	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518204	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518205	1.00[EUR][1000 genomes]
rs62518206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518213	1.00[EUR][1000 genomes]
rs62518215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518216	1.00[EUR][1000 genomes]
rs62518217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62518226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987323	0.90[EUR][1000 genomes]
rs6997994	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000956	0.90[EUR][1000 genomes]
rs7002613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008048	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7015920	1.00[EUR][1000 genomes]
rs7815274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823429	0.93[EUR][1000 genomes]
rs7824160	0.93[AMR][1000 genomes]
rs7824783	1.00[EUR][1000 genomes]
rs7832104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839973	0.93[EUR][1000 genomes]
rs7844824	0.93[EUR][1000 genomes]
rs9298625	0.90[EUR][1000 genomes]
rs9298626	0.90[EUR][1000 genomes]
rs9298627	0.90[EUR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42568600-42574600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:42568800-42574800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:42569000-42574400	Weak transcription	Fetal Thymus	thymus
4	chr8:42570600-42575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:42570800-42574600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:42570800-42575600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:42570800-42575600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:42571000-42575600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:42573400-42575800	Enhancers	Primary T cells from cord blood	blood
10	chr8:42574000-42575600	Enhancers	Thymus	Thymus
11	chr8:42574000-42575800	Enhancers	A549	lung
12	chr8:42574000-42576800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:42574000-42577400	Enhancers	HUVEC	blood vessel
14	chr8:42574200-42574800	Enhancers	HepG2	liver
15	chr8:42574200-42575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:42574200-42575400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:42574200-42575400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:42574200-42575800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:42574200-42576400	Enhancers	NH-A	brain
20	chr8:42574200-42576600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:42574200-42577200	Enhancers	NHLF	lung
22	chr8:42574200-42577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:42574200-42578000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:42574200-42578000	Enhancers	Primary T helper cells PMA-I stimulated	--

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