Variant report

Variant	rs61589037
Chromosome Location	chr8:48411771-48411772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48409859..48412795-chr8:48648152..48651126,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12114231	0.96[AFR][1000 genomes]
rs73676320	1.00[AMR][1000 genomes]
rs73676338	0.83[AFR][1000 genomes]
rs73676339	0.92[AFR][1000 genomes]
rs73677539	1.00[AMR][1000 genomes]
rs7817202	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
2	chr8:48397600-48419400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
4	chr8:48397800-48417600	Weak transcription	Gastric	stomach
5	chr8:48397800-48418200	Weak transcription	Dnd41	blood
6	chr8:48398200-48417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:48398200-48420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48398200-48421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:48404800-48421200	Weak transcription	Lung	lung
14	chr8:48407800-48415000	Weak transcription	GM12878-XiMat	blood
15	chr8:48407800-48418600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:48408400-48412000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:48409000-48411800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:48410200-48412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:48410400-48411800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:48410400-48411800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:48410400-48411800	Active TSS	Fetal Muscle Trunk	muscle
22	chr8:48410400-48412000	Active TSS	Fetal Muscle Leg	muscle
23	chr8:48410600-48411800	Enhancers	A549	lung
24	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
26	chr8:48410800-48411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:48410800-48411800	Weak transcription	Ovary	ovary
28	chr8:48410800-48421600	Weak transcription	HSMM	muscle
29	chr8:48411000-48411800	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:48411000-48412000	Flanking Active TSS	Liver	Liver
31	chr8:48411000-48412000	Enhancers	Fetal Lung	lung
32	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
33	chr8:48411200-48411800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:48411200-48411800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:48411200-48412000	Enhancers	HSMMtube	muscle
36	chr8:48411400-48411800	Enhancers	Hela-S3	cervix
37	chr8:48411400-48412000	Enhancers	HepG2	liver
38	chr8:48411400-48417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:48411400-48420000	Weak transcription	HMEC	breast
40	chr8:48411600-48411800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:48411600-48411800	Enhancers	Colon Smooth Muscle	Colon
42	chr8:48411600-48411800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:48411600-48412000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney

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