Variant report

Variant	rs72914401
Chromosome Location	chr3:86972693-86972694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58205454	1.00[AMR][1000 genomes]
rs58300051	1.00[AMR][1000 genomes]
rs58929789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908438	1.00[AMR][1000 genomes]
rs72910443	1.00[AMR][1000 genomes]
rs72910457	1.00[AMR][1000 genomes]
rs72910476	1.00[AMR][1000 genomes]
rs72910478	1.00[AMR][1000 genomes]
rs72910479	1.00[AMR][1000 genomes]
rs72910480	1.00[AMR][1000 genomes]
rs72910482	1.00[AMR][1000 genomes]
rs72910495	1.00[AMR][1000 genomes]
rs72910498	1.00[AMR][1000 genomes]
rs72912386	1.00[AMR][1000 genomes]
rs72914337	1.00[AMR][1000 genomes]
rs72914359	1.00[AMR][1000 genomes]
rs72914380	1.00[AMR][1000 genomes]
rs72914391	1.00[AMR][1000 genomes]
rs72914394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72916014	1.00[AMR][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	nsv519148	chr3:86831077-86995124	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86970600-86973600	Enhancers	Osteobl	bone
2	chr3:86970800-86973400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:86970800-86973400	Enhancers	HMEC	breast
4	chr3:86970800-86973600	Enhancers	HSMMtube	muscle
5	chr3:86970800-86973600	Enhancers	NHLF	lung
6	chr3:86970800-86973800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:86971000-86972800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:86971000-86973400	Enhancers	NHEK	skin
9	chr3:86971200-86973600	Enhancers	Hela-S3	cervix
10	chr3:86971400-86972800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:86971400-86973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:86971600-86972800	Enhancers	Fetal Muscle Leg	muscle
13	chr3:86971600-86972800	Enhancers	Placenta	Placenta
14	chr3:86971600-86973400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:86971600-86973800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:86971600-86974200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:86972000-86972800	Enhancers	NH-A	brain
18	chr3:86972000-86973200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:86972400-86972800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:86972400-86973800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:86972600-86972800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:86972600-86973000	Active TSS	HSMM	muscle
23	chr3:86972600-86973600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:86972600-86973800	Enhancers	NHDF-Ad	bronchial
25	chr3:86972600-86974600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:86972600-86986400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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