Variant report

Variant	rs4649941
Chromosome Location	chr1:72031176-72031177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493485	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889921	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11209800	0.96[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs11209801	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12021677	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1213521	0.96[CEU][hapmap]
rs12139658	0.92[EUR][1000 genomes]
rs12564885	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742274	0.89[EUR][1000 genomes]
rs12757106	0.96[CEU][hapmap]
rs12757229	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs1333998	0.92[EUR][1000 genomes]
rs1333999	0.92[EUR][1000 genomes]
rs1334000	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1334001	0.92[EUR][1000 genomes]
rs1335223	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1335224	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1517752	0.95[EUR][1000 genomes]
rs1855647	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2184232	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs6424431	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6424432	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6424433	0.92[EUR][1000 genomes]
rs6656539	0.92[EUR][1000 genomes]
rs6664443	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6668345	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6700555	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7553565	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs928615	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs951950	1.00[CEU][hapmap];0.94[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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546474	chr1:71793221-72040354	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:72027400-72031200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:72030600-72031800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:72030600-72032200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:72030800-72031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:72030800-72031400	Enhancers	NHEK	skin
6	chr1:72030800-72031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:72030800-72031800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:72030800-72031800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:72031000-72031600	Enhancers	Rectal Smooth Muscle	rectum

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