Variant report

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12530920	0.87[ASN][1000 genomes]
rs2023936	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2023938	0.80[AFR][1000 genomes]
rs2074633	0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2526620	0.93[ASN][1000 genomes]
rs28688791	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57301765	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788833	0.81[JPT][hapmap]
rs7788972	0.83[JPT][hapmap]
rs7798197	0.85[AMR][1000 genomes];0.89[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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv887817	chr7:19021592-19100076	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:3)

Disease	PMID	Source
Large artery stroke	24262325	GWAS catalog
Stroke (ischemic)	23041239	GWAS catalog
Coronary artery disease or large artery stroke	24262325	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19036000-19053400	Weak transcription	HSMMtube	muscle
2	chr7:19036000-19055800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:19048400-19050400	Enhancers	NHEK	skin
4	chr7:19048600-19051000	Weak transcription	Aorta	Aorta
5	chr7:19048800-19049400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:19048800-19049600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:19048800-19049800	Enhancers	HSMM	muscle
8	chr7:19049000-19049400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:19049000-19049400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:19049000-19049400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:19049000-19049400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:19049000-19049400	Flanking Active TSS	NH-A	brain
13	chr7:19049000-19049400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr7:19049000-19049600	Flanking Active TSS	Osteobl	bone
15	chr7:19049000-19050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:19049000-19051000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:19049200-19049400	Enhancers	Adipose Nuclei	Adipose
18	chr7:19049200-19049600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:19049200-19049800	Weak transcription	HMEC	breast
20	chr7:19049200-19050600	Weak transcription	NHLF	lung

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