Variant report

Variant	rs72670319
Chromosome Location	chr1:57335581-57335582
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	chr1:57335538..57338188-chr1:57354917..57357199,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489623	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11206932	0.81[ASN][1000 genomes]
rs12401558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406202	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407519	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1329449	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1885002	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887977	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2145404	0.81[ASN][1000 genomes]
rs2269114	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2269115	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269118	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2269119	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269121	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300954	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2300955	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34748213	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35562962	0.94[ASN][1000 genomes]
rs3768215	0.81[ASN][1000 genomes]
rs55894323	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57210737	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58983677	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6681119	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694643	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697228	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670317	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670327	0.94[ASN][1000 genomes]
rs857040	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv508215	chr1:57319460-57351150	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57324400-57339000	Weak transcription	HepG2	liver
2	chr1:57332200-57336000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:57332400-57343000	Strong transcription	Liver	Liver
4	chr1:57332600-57336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:57332600-57336200	Enhancers	NHDF-Ad	bronchial
6	chr1:57333000-57338200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:57333200-57336000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:57333400-57338400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:57333600-57338400	Weak transcription	NHEK	skin
10	chr1:57333800-57338200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:57334400-57338200	Weak transcription	Osteobl	bone
12	chr1:57334600-57338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:57334600-57343400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:57334800-57338600	Weak transcription	NHLF	lung

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