Variant report

Variant	rs58124215
Chromosome Location	chr1:152916375-152916376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10494282	1.00[ASN][1000 genomes]
rs10788849	0.95[EUR][1000 genomes]
rs11205143	0.85[EUR][1000 genomes]
rs11576457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576882	1.00[ASN][1000 genomes]
rs11577384	0.99[ASN][1000 genomes]
rs11578914	1.00[ASN][1000 genomes]
rs11581802	0.94[ASN][1000 genomes]
rs11587269	0.99[ASN][1000 genomes]
rs11588463	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11590369	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11803197	0.96[EUR][1000 genomes]
rs12734348	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748969	0.95[EUR][1000 genomes]
rs17627288	1.00[ASN][1000 genomes]
rs2050674	0.97[EUR][1000 genomes]
rs2066004	0.97[EUR][1000 genomes]
rs2066005	0.95[EUR][1000 genomes]
rs2068678	1.00[ASN][1000 genomes]
rs2339386	1.00[ASN][1000 genomes]
rs28462230	0.97[ASN][1000 genomes]
rs28608883	0.91[ASN][1000 genomes]
rs4620471	1.00[ASN][1000 genomes]
rs4845497	0.96[EUR][1000 genomes]
rs4845501	0.94[EUR][1000 genomes]
rs55959888	1.00[ASN][1000 genomes]
rs56241316	1.00[ASN][1000 genomes]
rs56335979	0.96[ASN][1000 genomes]
rs56347903	0.95[EUR][1000 genomes]
rs61815707	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61815711	0.96[ASN][1000 genomes]
rs61815713	0.98[ASN][1000 genomes]
rs61815714	1.00[ASN][1000 genomes]
rs61815715	0.97[ASN][1000 genomes]
rs6587714	0.94[EUR][1000 genomes]
rs6656812	0.95[EUR][1000 genomes]
rs6663448	1.00[ASN][1000 genomes]
rs6664411	0.95[EUR][1000 genomes]
rs6664823	0.95[EUR][1000 genomes]
rs6665728	0.97[ASN][1000 genomes]
rs6675352	0.93[EUR][1000 genomes]
rs6690549	0.94[EUR][1000 genomes]
rs6690672	0.95[EUR][1000 genomes]
rs7541328	1.00[ASN][1000 genomes]
rs7551014	1.00[ASN][1000 genomes]
rs7556517	0.94[EUR][1000 genomes]
rs756303	0.97[EUR][1000 genomes]
rs883810	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv831592	chr1:152815054-152997162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv998873	chr1:152869127-152975258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
8	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152914800-152918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152914800-152918400	Weak transcription	NHEK	skin
3	chr1:152915000-152917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152916000-152916400	Enhancers	HMEC	breast
5	chr1:152916200-152916400	Enhancers	Esophagus	oesophagus
6	chr1:152916200-152916600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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