Variant report

Variant	rs10520952
Chromosome Location	chr5:29794237-29794238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10055152	0.81[ASN][1000 genomes]
rs10805537	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10940816	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10940817	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10940824	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10940826	0.80[EUR][1000 genomes]
rs10940827	0.94[CEU][hapmap];0.83[CHB][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs11737948	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745229	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745291	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956675	0.80[EUR][1000 genomes]
rs12516688	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12517227	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12517273	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12518960	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12520342	0.80[AFR][1000 genomes]
rs12522971	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12523035	0.94[CEU][hapmap];0.85[CHB][hapmap]
rs12651890	0.94[ASN][1000 genomes]
rs12655040	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656086	0.94[ASN][1000 genomes]
rs1350222	0.94[ASN][1000 genomes]
rs1428312	0.94[CEU][hapmap]
rs1428314	0.94[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap]
rs1456641	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1456642	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1456643	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1463414	0.81[ASN][1000 genomes]
rs16899381	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16899407	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899413	0.94[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs16899416	0.94[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs16899419	0.94[CEU][hapmap];0.83[CHB][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899422	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2019012	0.82[CHB][hapmap]
rs2124716	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2219325	0.94[ASN][1000 genomes]
rs2330316	0.94[CEU][hapmap]
rs2925526	0.82[CHB][hapmap]
rs4343854	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4458582	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4621572	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58306893	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58977762	0.81[AMR][1000 genomes]
rs59897238	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61330469	0.93[ASN][1000 genomes]
rs61531233	0.91[ASN][1000 genomes]
rs62348668	0.83[AFR][1000 genomes]
rs62348702	0.80[AFR][1000 genomes]
rs62348703	0.80[AFR][1000 genomes]
rs62348704	0.80[AFR][1000 genomes]
rs62348709	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs66702955	0.94[ASN][1000 genomes]
rs67126601	0.94[ASN][1000 genomes]
rs6877378	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6888901	0.81[ASN][1000 genomes]
rs72743255	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743256	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743261	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743275	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1019541	chr5:29786932-29814309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1016811	chr5:29786932-29824596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv462086	chr5:29789231-29794237	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv597759	chr5:29789231-29794237	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29794200-29794600	Enhancers	Fetal Intestine Small	intestine
2	chr5:29794200-29795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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