Variant report

Variant	rs72678246
Chromosome Location	chr8:121359825-121359826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72678219	1.00[AMR][1000 genomes]
rs72678248	1.00[AMR][1000 genomes]
rs72678268	1.00[AMR][1000 genomes]
rs72680535	1.00[AMR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr8:121320400-121372600	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121333800-121383800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121344200-121361400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:121346400-121377600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:121354000-121360000	Enhancers	HSMM	muscle
6	chr8:121354400-121361400	Strong transcription	Fetal Lung	lung
7	chr8:121356200-121360200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:121356200-121360200	Enhancers	NHDF-Ad	bronchial
9	chr8:121356200-121360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121356600-121360200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:121357200-121360000	Enhancers	Osteobl	bone
12	chr8:121358000-121372000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:121358400-121360000	Enhancers	HMEC	breast
14	chr8:121358600-121360200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121358800-121360000	Enhancers	HSMMtube	muscle
16	chr8:121358800-121360000	Enhancers	NH-A	brain
17	chr8:121358800-121360200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:121358800-121360200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:121358800-121360200	Strong transcription	Placenta	Placenta
20	chr8:121359600-121360000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:121359800-121361000	Weak transcription	Fetal Brain Male	brain
22	chr8:121359800-121368400	Weak transcription	Fetal Stomach	stomach
23	chr8:121359800-121369400	Weak transcription	Aorta	Aorta
24	chr8:121359800-121372000	Weak transcription	Ovary	ovary

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