Variant report

Variant	rs58572522
Chromosome Location	chr8:48519423-48519424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48518671..48521335-chr8:48522262..48524014,3	MCF-7	breast:
2	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
3	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.87[AFR][1000 genomes]
rs57659543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.87[AFR][1000 genomes]
rs73565260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567589	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.82[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:10 , 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	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
5	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
6	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
7	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
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48498600-48522600	Weak transcription	Fetal Stomach	stomach
3	chr8:48503600-48535000	Weak transcription	Dnd41	blood
4	chr8:48506400-48522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:48506600-48525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:48506600-48530600	Weak transcription	HepG2	liver
7	chr8:48507200-48522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:48507800-48522400	Weak transcription	HSMM	muscle
9	chr8:48510400-48523400	Weak transcription	Hela-S3	cervix
10	chr8:48510600-48522800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:48510600-48523000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
13	chr8:48511800-48521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:48511800-48523000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:48512400-48522800	Weak transcription	Aorta	Aorta
17	chr8:48512400-48522800	Weak transcription	Spleen	Spleen
18	chr8:48513000-48532000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:48513600-48522800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:48513800-48520000	Weak transcription	A549	lung
21	chr8:48514000-48520600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:48514200-48522200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:48514400-48522400	Weak transcription	NHDF-Ad	bronchial
25	chr8:48514400-48522800	Weak transcription	Primary B cells from cord blood	blood
26	chr8:48514400-48522800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:48514400-48522800	Weak transcription	Placenta	Placenta
28	chr8:48514400-48522800	Weak transcription	Lung	lung
29	chr8:48514800-48523600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:48515000-48522800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:48515000-48524800	Weak transcription	Small Intestine	intestine
32	chr8:48515200-48522200	Weak transcription	NHLF	lung
33	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:48515600-48532000	Weak transcription	Fetal Lung	lung
36	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:48516000-48523400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:48516000-48525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:48516200-48524800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:48516200-48528400	Weak transcription	Fetal Brain Male	brain
41	chr8:48516400-48525200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:48516800-48520200	Enhancers	Psoas Muscle	Psoas
43	chr8:48517000-48519600	Enhancers	Fetal Muscle Leg	muscle
44	chr8:48517000-48522800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:48517200-48522800	Weak transcription	Left Ventricle	heart
46	chr8:48517600-48522800	Weak transcription	Gastric	stomach
47	chr8:48517600-48524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:48518000-48522800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:48518000-48522800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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