Variant report

Variant	rs4873529
Chromosome Location	chr8:48565786-48565787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr8:48565211-48565841	HCT-116	colon:	n/a	n/a
2	JUND	chr8:48565129-48565800	HCT-116	colon:	n/a	chr8:48565642-48565650
3	SP1	chr8:48565126-48565827	HCT-116	colon:	n/a	chr8:48565721-48565730
4	JUND	chr8:48565090-48565796	HCT-116	colon:	n/a	chr8:48565642-48565650
5	SP1	chr8:48565137-48565828	HCT-116	colon:	n/a	chr8:48565721-48565730
6	FOS	chr8:48565223-48565918	MCF10A-Er-Src	breast:	n/a	chr8:48565642-48565650
7	FOSL1	chr8:48565109-48565858	HCT-116	colon:	n/a	chr8:48565642-48565650
8	FOS	chr8:48565250-48565978	MCF10A-Er-Src	breast:	n/a	chr8:48565642-48565650

Variant related genes	Relation type
SPIDR	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10957549	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10957644	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10958058	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11778548	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782572	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11784823	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs12544329	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549996	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12675378	0.91[EUR][1000 genomes]
rs12678110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16928696	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1872840	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2129617	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2129618	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2130411	0.83[CEU][hapmap]
rs2130412	0.90[EUR][1000 genomes]
rs2130413	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4489323	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4536257	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4608108	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873368	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs4873395	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873399	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873437	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873507	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873565	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873619	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55941013	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56092229	0.95[EUR][1000 genomes]
rs62539116	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62539144	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62539147	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62539150	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982620	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6987043	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989917	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014443	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7827571	0.82[CEU][hapmap]
rs876915	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs923499	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
12	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
13	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea
14	chr8:48560600-48571200	Weak transcription	Placenta	Placenta
15	chr8:48564200-48566800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:48564400-48566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:48564400-48566600	Enhancers	NHEK	skin
18	chr8:48564400-48566800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:48564600-48566200	Enhancers	HMEC	breast
20	chr8:48564800-48565800	Enhancers	HUVEC	blood vessel
21	chr8:48564800-48566000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:48564800-48566000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:48564800-48566000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:48564800-48566000	Enhancers	HSMM	muscle
25	chr8:48564800-48566000	Enhancers	NHLF	lung
26	chr8:48564800-48566200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:48564800-48566200	Enhancers	Hela-S3	cervix
28	chr8:48564800-48566200	Enhancers	NHDF-Ad	bronchial
29	chr8:48564800-48566400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:48564800-48566800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:48564800-48566800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:48564800-48566800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:48565000-48565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:48565000-48570400	Weak transcription	Gastric	stomach
35	chr8:48565000-48571200	Weak transcription	Right Ventricle	heart
36	chr8:48565000-48571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:48565200-48565800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:48565200-48565800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:48565200-48566000	Enhancers	Osteobl	bone
40	chr8:48565200-48566600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:48565400-48565800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:48565400-48566000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:48565400-48566000	Enhancers	NH-A	brain
44	chr8:48565400-48566200	Enhancers	Esophagus	oesophagus
45	chr8:48565400-48566800	Enhancers	Psoas Muscle	Psoas
46	chr8:48565600-48566800	Weak transcription	A549	lung
47	chr8:48565600-48574400	Weak transcription	Aorta	Aorta

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