Variant report

Variant	rs7952819
Chromosome Location	chr12:43005789-43005790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10736003	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10785355	0.87[AFR][1000 genomes]
rs10785356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880331	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11181583	0.93[AFR][1000 genomes]
rs12422484	0.82[EUR][1000 genomes]
rs12423337	1.00[EUR][1000 genomes]
rs12423346	1.00[EUR][1000 genomes]
rs12423349	1.00[EUR][1000 genomes]
rs12423470	0.82[EUR][1000 genomes]
rs12423824	0.82[EUR][1000 genomes]
rs12424138	0.88[EUR][1000 genomes]
rs12424455	0.88[EUR][1000 genomes]
rs12424504	0.88[EUR][1000 genomes]
rs12424511	0.88[EUR][1000 genomes]
rs12424763	0.88[EUR][1000 genomes]
rs12424886	0.88[EUR][1000 genomes]
rs12425177	0.88[EUR][1000 genomes]
rs12425193	0.88[EUR][1000 genomes]
rs12425470	1.00[CEU][hapmap]
rs12425775	0.88[EUR][1000 genomes]
rs12426290	0.88[EUR][1000 genomes]
rs12426303	0.88[EUR][1000 genomes]
rs12426479	0.82[EUR][1000 genomes]
rs12426718	0.82[EUR][1000 genomes]
rs12426988	0.88[EUR][1000 genomes]
rs12827135	1.00[EUR][1000 genomes]
rs17091490	1.00[EUR][1000 genomes]
rs17091505	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1882663	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1922756	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2178751	1.00[EUR][1000 genomes]
rs2406858	0.88[EUR][1000 genomes]
rs2406861	1.00[EUR][1000 genomes]
rs2406862	1.00[EUR][1000 genomes]
rs2897539	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4238085	1.00[EUR][1000 genomes]
rs4321015	1.00[EUR][1000 genomes]
rs4590936	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57263961	0.82[EUR][1000 genomes]
rs57908879	0.88[EUR][1000 genomes]
rs60211398	0.88[EUR][1000 genomes]
rs60776045	0.82[EUR][1000 genomes]
rs7131974	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7133039	0.88[EUR][1000 genomes]
rs7133172	0.88[EUR][1000 genomes]
rs7133774	0.88[EUR][1000 genomes]
rs7295407	0.94[EUR][1000 genomes]
rs7296915	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7301558	0.97[EUR][1000 genomes]
rs7303511	0.82[EUR][1000 genomes]
rs7304849	0.88[EUR][1000 genomes]
rs7306530	0.82[EUR][1000 genomes]
rs7306683	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7307159	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7314565	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7959843	1.00[EUR][1000 genomes]
rs7964774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976696	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7980015	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9988993	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43002800-43007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:43005000-43006000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:43005000-43006800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:43005200-43005800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:43005200-43006000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:43005200-43006200	Enhancers	HUVEC	blood vessel
7	chr12:43005200-43007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:43005400-43006000	Enhancers	Fetal Stomach	stomach
9	chr12:43005400-43006000	Enhancers	NHEK	skin
10	chr12:43005400-43006200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr12:43005400-43006200	Enhancers	Osteobl	bone
12	chr12:43005400-43006400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:43005400-43006400	Enhancers	NHDF-Ad	bronchial
14	chr12:43005400-43006600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:43005400-43006600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:43005400-43006800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:43005400-43006800	Enhancers	Adipose Nuclei	Adipose
18	chr12:43005600-43005800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:43005600-43006000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:43005600-43006000	Enhancers	Ovary	ovary
21	chr12:43005600-43006400	Enhancers	Colon Smooth Muscle	Colon
22	chr12:43005600-43006400	Enhancers	Fetal Kidney	kidney
23	chr12:43005600-43006600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:43005600-43006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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