Variant report

Variant	rs7003614
Chromosome Location	chr8:48452929-48452930
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10086266	0.84[AFR][1000 genomes]
rs10090708	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093950	0.82[AFR][1000 genomes]
rs10094689	0.80[AFR][1000 genomes]
rs10099656	0.82[AFR][1000 genomes]
rs10102782	0.82[AFR][1000 genomes]
rs10104074	0.86[AFR][1000 genomes]
rs10104642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110049	0.88[AFR][1000 genomes]
rs10111833	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11987727	0.82[AFR][1000 genomes]
rs11993708	0.84[AFR][1000 genomes]
rs11997023	0.86[AFR][1000 genomes]
rs28366397	0.82[AFR][1000 genomes]
rs28407704	0.82[AFR][1000 genomes]
rs28408352	0.80[AFR][1000 genomes]
rs28439682	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533391	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583978	0.84[AFR][1000 genomes]
rs28587193	0.84[AFR][1000 genomes]
rs28603312	0.86[AFR][1000 genomes]
rs28683713	0.84[AFR][1000 genomes]
rs28812531	0.84[AFR][1000 genomes]
rs28897086	0.84[AFR][1000 genomes]
rs34142661	1.00[AMR][1000 genomes]
rs6980675	0.86[AFR][1000 genomes]
rs6989067	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs6994360	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7010172	0.84[AFR][1000 genomes]
rs7014936	0.88[AFR][1000 genomes]
rs73677550	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7821542	0.84[AFR][1000 genomes]
rs7823419	0.82[AFR][1000 genomes]
rs7831198	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178240	1.00[AMR][1000 genomes]
rs8178253	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9657080	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48439800-48455400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:48442600-48454400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:48442800-48456000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:48447200-48466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:48452200-48453200	Enhancers	NHLF	lung
7	chr8:48452200-48453400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:48452200-48453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48452200-48453400	Enhancers	HSMMtube	muscle
10	chr8:48452200-48453600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:48452200-48454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:48452200-48454400	Enhancers	Placenta	Placenta
13	chr8:48452400-48453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48452400-48453200	Enhancers	Liver	Liver
15	chr8:48452400-48453200	Enhancers	Ovary	ovary
16	chr8:48452400-48453200	Enhancers	HSMM	muscle
17	chr8:48452400-48453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:48452400-48453400	Enhancers	NHDF-Ad	bronchial
19	chr8:48452400-48454200	Enhancers	Osteobl	bone
20	chr8:48452600-48453200	Enhancers	Fetal Kidney	kidney
21	chr8:48452600-48454200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:48452600-48466200	Weak transcription	Aorta	Aorta
23	chr8:48452600-48466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:48452800-48454200	Weak transcription	Primary monocytes fromperipheralblood	blood

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