Variant report

Variant	rs2390746
Chromosome Location	chr4:125870300-125870301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10021176	1.00[EUR][1000 genomes]
rs10022783	1.00[EUR][1000 genomes]
rs10033965	1.00[EUR][1000 genomes]
rs10212646	1.00[EUR][1000 genomes]
rs17008761	1.00[EUR][1000 genomes]
rs17008774	1.00[EUR][1000 genomes]
rs28373772	1.00[EUR][1000 genomes]
rs28461891	1.00[EUR][1000 genomes]
rs28878515	1.00[EUR][1000 genomes]
rs2893108	1.00[EUR][1000 genomes]
rs56234259	1.00[EUR][1000 genomes]
rs56276915	1.00[EUR][1000 genomes]
rs56819477	1.00[EUR][1000 genomes]
rs57913129	1.00[EUR][1000 genomes]
rs58752358	1.00[EUR][1000 genomes]
rs59571426	1.00[EUR][1000 genomes]
rs60218356	1.00[EUR][1000 genomes]
rs6824844	1.00[EUR][1000 genomes]
rs6829353	1.00[EUR][1000 genomes]
rs6852051	1.00[EUR][1000 genomes]
rs72912777	1.00[EUR][1000 genomes]
rs73845302	1.00[EUR][1000 genomes]
rs73845816	1.00[EUR][1000 genomes]
rs73845820	1.00[EUR][1000 genomes]
rs73848116	1.00[EUR][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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125862000-125874200	Weak transcription	Fetal Heart	heart
2	chr4:125862800-125874000	Weak transcription	NHDF-Ad	bronchial
3	chr4:125867000-125873800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:125867800-125870600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:125868000-125870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:125868200-125873400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:125869000-125873800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:125869200-125870600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:125869200-125870800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:125869200-125873800	Weak transcription	HMEC	breast
11	chr4:125869400-125870800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:125869400-125870800	Enhancers	Osteobl	bone
13	chr4:125869400-125874000	Weak transcription	NHEK	skin
14	chr4:125869400-125874200	Weak transcription	NHLF	lung
15	chr4:125869600-125871200	Enhancers	HUVEC	blood vessel
16	chr4:125869800-125870600	Enhancers	Stomach Mucosa	stomach
17	chr4:125869800-125871000	Enhancers	NH-A	brain
18	chr4:125870000-125870400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:125870000-125870400	Enhancers	Left Ventricle	heart
20	chr4:125870000-125870400	Flanking Active TSS	Hela-S3	cervix
21	chr4:125870000-125870600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:125870200-125870400	Enhancers	Pancreas	Pancrea
23	chr4:125870200-125870400	Enhancers	Psoas Muscle	Psoas
24	chr4:125870200-125870600	Enhancers	Aorta	Aorta
25	chr4:125870200-125870600	Enhancers	Fetal Lung	lung
26	chr4:125870200-125870600	Enhancers	Fetal Stomach	stomach
27	chr4:125870200-125871000	Enhancers	Adipose Nuclei	Adipose

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