Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11581653	0.86[ASN][1000 genomes]
rs11589561	1.00[ASN][1000 genomes]
rs11591051	1.00[ASN][1000 genomes]
rs1386580	1.00[ASN][1000 genomes]
rs17461834	1.00[ASN][1000 genomes]
rs17462264	1.00[ASN][1000 genomes]
rs1906271	1.00[ASN][1000 genomes]
rs1906273	1.00[ASN][1000 genomes]
rs35052617	1.00[ASN][1000 genomes]
rs35061493	1.00[ASN][1000 genomes]
rs35077442	1.00[ASN][1000 genomes]
rs35784999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35844598	1.00[ASN][1000 genomes]
rs4573528	0.83[ASN][1000 genomes]
rs67867153	0.83[ASN][1000 genomes]
rs72734175	1.00[ASN][1000 genomes]
rs72734194	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765233	1.00[ASN][1000 genomes]
rs765308	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222614800-222628000	Weak transcription	Fetal Heart	heart
2	chr1:222615000-222628000	Weak transcription	Pancreas	Pancrea
3	chr1:222623600-222628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222624600-222627600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:222625200-222628000	Weak transcription	Aorta	Aorta
6	chr1:222626400-222628000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:222626600-222628200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:222626800-222627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:222626800-222628000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:222626800-222628400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:222626800-222629000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:222627200-222628000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:222627200-222628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:222627200-222628200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:222627200-222628600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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