Variant report

Variant	rs16916180
Chromosome Location	chr8:52307310-52307311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10110182	0.83[AMR][1000 genomes]
rs10504118	0.94[YRI][hapmap];0.97[AFR][1000 genomes]
rs28672912	0.83[AMR][1000 genomes]
rs9657146	0.83[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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52302800-52310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:52303000-52310800	Weak transcription	Fetal Stomach	stomach
3	chr8:52305600-52307800	Enhancers	NHDF-Ad	bronchial
4	chr8:52305800-52307800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:52305800-52309800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:52306200-52308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:52306200-52308400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:52306400-52307800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:52307000-52307400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:52307000-52307400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:52307000-52308600	Enhancers	HMEC	breast
12	chr8:52307000-52308800	Enhancers	Osteobl	bone
13	chr8:52307000-52309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:52307000-52309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:52307000-52309600	Enhancers	NH-A	brain
16	chr8:52307000-52312400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:52307200-52307600	Weak transcription	Fetal Lung	lung
18	chr8:52307200-52307600	Enhancers	Right Ventricle	heart
19	chr8:52307200-52307600	Enhancers	NHEK	skin
20	chr8:52307200-52308800	Enhancers	Left Ventricle	heart
21	chr8:52307200-52309000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:52307200-52309000	Enhancers	Right Atrium	heart

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