Variant report

Variant	rs60256648
Chromosome Location	chr8:48411405-48411406
allele	C/T
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: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	1.00[AFR][1000 genomes]
rs57659543	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565225	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	1.00[AFR][1000 genomes]
rs73565260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs73582806	1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	1.00[AMR][1000 genomes]
rs73582860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	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:46 , 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	chr8:48398400-48411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:48398600-48417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:48401400-48417400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:48402200-48417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:48404800-48421200	Weak transcription	Lung	lung
15	chr8:48407800-48415000	Weak transcription	GM12878-XiMat	blood
16	chr8:48407800-48418600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:48408400-48412000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:48409000-48411800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:48410000-48411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:48410200-48412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:48410400-48411600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:48410400-48411800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:48410400-48411800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:48410400-48411800	Active TSS	Fetal Muscle Trunk	muscle
25	chr8:48410400-48412000	Active TSS	Fetal Muscle Leg	muscle
26	chr8:48410600-48411600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:48410600-48411600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:48410600-48411800	Enhancers	A549	lung
29	chr8:48410600-48420800	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
31	chr8:48410800-48411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:48410800-48411800	Weak transcription	Ovary	ovary
33	chr8:48410800-48421600	Weak transcription	HSMM	muscle
34	chr8:48411000-48411800	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:48411000-48412000	Flanking Active TSS	Liver	Liver
36	chr8:48411000-48412000	Enhancers	Fetal Lung	lung
37	chr8:48411000-48420600	Weak transcription	Fetal Brain Male	brain
38	chr8:48411200-48411800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:48411200-48411800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:48411200-48412000	Enhancers	HSMMtube	muscle
41	chr8:48411400-48411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:48411400-48411600	Enhancers	Fetal Kidney	kidney
43	chr8:48411400-48411800	Enhancers	Hela-S3	cervix
44	chr8:48411400-48412000	Enhancers	HepG2	liver
45	chr8:48411400-48417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:48411400-48420000	Weak transcription	HMEC	breast

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