Variant report

Variant	rs73565280
Chromosome Location	chr8:48424573-48424574
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	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
2	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16927336	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.92[AFR][1000 genomes]
rs57659543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.92[AFR][1000 genomes]
rs73565260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.85[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.86[AFR][1000 genomes];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	0.84[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	0.89[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
2	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48420200-48426400	Weak transcription	Esophagus	oesophagus
5	chr8:48420400-48425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:48420600-48424600	Weak transcription	HMEC	breast
7	chr8:48420600-48424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48420600-48425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:48420800-48424800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:48420800-48425400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:48420800-48426000	Weak transcription	Primary T cells from cord blood	blood
12	chr8:48421000-48424800	Weak transcription	Stomach Mucosa	stomach
13	chr8:48421200-48424600	Weak transcription	NHEK	skin
14	chr8:48421200-48426000	Weak transcription	K562	blood
15	chr8:48421800-48424600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:48421800-48435200	Weak transcription	Primary B cells from cord blood	blood
17	chr8:48422000-48434800	Weak transcription	Fetal Thymus	thymus
18	chr8:48422200-48425000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:48422200-48425600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:48422400-48424600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:48422600-48424600	Weak transcription	Liver	Liver
22	chr8:48422600-48424600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:48422600-48424800	Enhancers	Fetal Lung	lung
24	chr8:48422600-48425600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:48422600-48425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:48422600-48425600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:48422600-48425600	Weak transcription	GM12878-XiMat	blood
28	chr8:48422600-48426200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:48422600-48426200	Weak transcription	Fetal Brain Male	brain
30	chr8:48423000-48424600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:48423200-48424600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:48423200-48425000	Enhancers	Lung	lung
33	chr8:48423200-48428400	Enhancers	Placenta	Placenta
34	chr8:48423400-48424600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:48423400-48424600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:48423400-48424600	Genic enhancers	HSMM	muscle
37	chr8:48423400-48424600	Enhancers	NHDF-Ad	bronchial
38	chr8:48423400-48424800	Enhancers	Ovary	ovary
39	chr8:48423400-48424800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:48423400-48424800	Enhancers	Hela-S3	cervix
41	chr8:48423400-48424800	Genic enhancers	NHLF	lung
42	chr8:48423400-48425200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:48423400-48425200	Enhancers	Left Ventricle	heart
44	chr8:48423400-48425200	Enhancers	Right Ventricle	heart
45	chr8:48423400-48425400	Enhancers	Right Atrium	heart
46	chr8:48423600-48424600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:48423600-48424600	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:48423600-48424800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:48423600-48424800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:48423600-48425000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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