Variant report

Variant	rs10489785
Chromosome Location	chr1:78907483-78907484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10782665	0.86[JPT][hapmap]
rs10873979	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs10873980	0.86[CEU][hapmap]
rs10873983	0.81[CEU][hapmap]
rs10873984	0.81[EUR][1000 genomes]
rs10873985	0.81[CHB][hapmap]
rs11162479	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs11162488	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11162489	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11162490	0.95[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11162492	0.90[JPT][hapmap]
rs12049259	0.92[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs12122274	0.83[CEU][hapmap]
rs12128334	0.82[EUR][1000 genomes]
rs12132664	0.86[CEU][hapmap]
rs12733301	0.90[CEU][hapmap]
rs12752083	0.92[CEU][hapmap]
rs1332254	0.86[JPT][hapmap]
rs1333070	0.83[CEU][hapmap]
rs1333071	0.85[CEU][hapmap]
rs1543675	0.86[JPT][hapmap]
rs1571366	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs1581749	0.86[JPT][hapmap]
rs1929982	0.92[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2208897	0.85[JPT][hapmap]
rs2224674	0.95[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2990698	0.92[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs4650549	0.81[JPT][hapmap]
rs473910	0.84[CEU][hapmap]
rs482493	0.85[EUR][1000 genomes]
rs490938	0.87[CEU][hapmap]
rs494981	0.95[CEU][hapmap]
rs521636	0.84[CEU][hapmap]
rs523464	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs525351	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs537086	0.83[EUR][1000 genomes]
rs538855	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs555475	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs571456	0.88[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs583964	0.92[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs585795	0.82[EUR][1000 genomes]
rs587996	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs591889	0.85[EUR][1000 genomes]
rs631280	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs632184	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs639594	0.84[EUR][1000 genomes]
rs646012	0.95[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs648572	0.85[EUR][1000 genomes]
rs6678699	0.86[JPT][hapmap]
rs678443	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78903800-78913000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:78904800-78907800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:78905400-78908400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:78906000-78907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:78906200-78907800	Weak transcription	Osteobl	bone
6	chr1:78906800-78907600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:78906800-78907600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78906800-78907600	Weak transcription	HSMMtube	muscle
9	chr1:78907400-78908000	Enhancers	NHDF-Ad	bronchial

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