Variant report

Variant	rs7130252
Chromosome Location	chr11:57022972-57022973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10792083	0.81[JPT][hapmap]
rs10896595	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896597	0.94[ASN][1000 genomes]
rs10896599	0.86[ASN][1000 genomes]
rs11228968	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228975	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228976	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228978	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228980	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228982	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228984	0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs11228985	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11600878	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604560	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604778	0.84[ASN][1000 genomes]
rs11605053	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607817	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419065	0.89[ASN][1000 genomes]
rs12421633	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792781	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12797769	0.96[ASN][1000 genomes]
rs17572970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651610	1.00[ASN][1000 genomes]
rs17652078	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892963	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892964	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1939489	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939495	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155230	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155231	0.89[ASN][1000 genomes]
rs2226613	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276038	0.82[JPT][hapmap]
rs2511026	0.85[ASN][1000 genomes]
rs2511029	0.89[ASN][1000 genomes]
rs2511030	0.94[ASN][1000 genomes]
rs2846042	0.94[ASN][1000 genomes]
rs2846049	0.83[ASN][1000 genomes]
rs2846050	0.94[ASN][1000 genomes]
rs2846051	0.87[ASN][1000 genomes]
rs2851722	0.94[ASN][1000 genomes]
rs35610294	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935068	0.95[ASN][1000 genomes]
rs4384399	0.99[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565915	0.95[ASN][1000 genomes]
rs479949	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938855	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938857	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938859	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4938861	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4939132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs499318	0.94[ASN][1000 genomes]
rs5012051	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs519277	0.94[ASN][1000 genomes]
rs522656	0.89[ASN][1000 genomes]
rs528101	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58295319	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs590240	0.89[ASN][1000 genomes]
rs599947	0.89[ASN][1000 genomes]
rs625565	0.94[ASN][1000 genomes]
rs652016	0.92[ASN][1000 genomes]
rs654635	0.94[ASN][1000 genomes]
rs6591413	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591415	0.98[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591416	0.95[ASN][1000 genomes]
rs6591417	0.95[ASN][1000 genomes]
rs7102963	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120644	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128371	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72921992	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935236	0.91[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57017200-57023200	Weak transcription	HSMMtube	muscle
2	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain
3	chr11:57018200-57028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:57021000-57023400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57021200-57023200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57021400-57023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:57021600-57023800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:57022000-57023600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:57022200-57023200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:57022400-57023200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:57022400-57023600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:57022600-57023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:57022600-57023600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:57022600-57023600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:57022600-57023600	Enhancers	NHEK	skin
16	chr11:57022800-57023200	Enhancers	HSMM	muscle
17	chr11:57022800-57023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:57022800-57023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:57022800-57023600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:57022800-57023600	Enhancers	HMEC	breast

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