Variant report

Variant	rs72678219
Chromosome Location	chr8:121292855-121292856
allele	A/C
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:3)

rs_ID	r²[population]
rs72678246	1.00[AMR][1000 genomes]
rs72678248	1.00[AMR][1000 genomes]
rs72678268	1.00[AMR][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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121275600-121293400	Weak transcription	Fetal Stomach	stomach
2	chr8:121284400-121295000	Weak transcription	Aorta	Aorta
3	chr8:121284400-121295800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:121284800-121347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:121285200-121299000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:121287400-121322600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:121289400-121299200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:121291800-121301000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:121292000-121295400	Strong transcription	Ovary	ovary
10	chr8:121292200-121293000	Enhancers	Fetal Lung	lung
11	chr8:121292200-121293000	Strong transcription	Placenta	Placenta
12	chr8:121292800-121294600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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