Variant report

Variant	rs12087043
Chromosome Location	chr1:192829838-192829839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10489514	1.00[ASN][1000 genomes]
rs10494676	0.83[EUR][1000 genomes]
rs10494677	0.83[EUR][1000 genomes]
rs10921281	1.00[EUR][1000 genomes]
rs10921284	0.83[EUR][1000 genomes]
rs10921288	0.83[EUR][1000 genomes]
rs12076933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091901	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231819	1.00[ASN][1000 genomes]
rs1625786	1.00[ASN][1000 genomes]
rs16834887	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834924	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834941	0.94[EUR][1000 genomes]
rs16834945	0.82[EUR][1000 genomes]
rs1770915	1.00[ASN][1000 genomes]
rs1770918	1.00[ASN][1000 genomes]
rs1775687	1.00[ASN][1000 genomes]
rs1775688	1.00[ASN][1000 genomes]
rs1775689	1.00[ASN][1000 genomes]
rs1775690	1.00[ASN][1000 genomes]
rs1775691	1.00[ASN][1000 genomes]
rs1775693	1.00[ASN][1000 genomes]
rs2153083	1.00[ASN][1000 genomes]
rs2370026	0.83[EUR][1000 genomes]
rs58637690	0.83[EUR][1000 genomes]
rs60641679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61394494	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428139	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660343	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661981	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700848	0.94[EUR][1000 genomes]
rs715422	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73064200	0.84[AFR][1000 genomes]
rs7514204	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523033	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542329	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192829000-192831600	Enhancers	Stomach Mucosa	stomach
2	chr1:192829200-192832400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:192829600-192830000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:192829600-192830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:192829600-192830200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:192829600-192830200	Enhancers	Pancreas	Pancrea
7	chr1:192829800-192830200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:192829800-192831600	Enhancers	Hela-S3	cervix
9	chr1:192829800-192831600	Enhancers	NHEK	skin
10	chr1:192829800-192832000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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