Variant report

Variant	rs4873565
Chromosome Location	chr8:48601852-48601853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10957644	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10958058	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784823	0.90[EUR][1000 genomes]
rs12544329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12675378	0.92[EUR][1000 genomes]
rs12678110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16928696	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2129618	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2130412	0.90[EUR][1000 genomes]
rs2130413	0.92[EUR][1000 genomes]
rs4489323	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536257	0.84[EUR][1000 genomes]
rs4608108	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873368	0.89[EUR][1000 genomes]
rs4873395	1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873399	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4873507	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873529	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[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55941013	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56092229	0.89[EUR][1000 genomes]
rs62539116	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62539144	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62539147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62539150	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982620	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6987043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989917	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014443	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs876915	0.89[EUR][1000 genomes]
rs923499	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
3	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
7	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48590600-48625200	Weak transcription	HepG2	liver
10	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
11	chr8:48591400-48606000	Weak transcription	Right Ventricle	heart
12	chr8:48591800-48606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48593000-48605600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
15	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
17	chr8:48593600-48606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:48593600-48606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
22	chr8:48596000-48603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:48596000-48604000	Weak transcription	Small Intestine	intestine
24	chr8:48596000-48604200	Weak transcription	Left Ventricle	heart
25	chr8:48596000-48604800	Weak transcription	Brain Substantia Nigra	brain
26	chr8:48596000-48605400	Weak transcription	Gastric	stomach
27	chr8:48596000-48607800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:48596200-48604000	Weak transcription	Brain Anterior Caudate	brain
29	chr8:48597000-48610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:48597000-48610400	Weak transcription	Ovary	ovary
31	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
33	chr8:48597200-48647200	Weak transcription	NHEK	skin
34	chr8:48597200-48647400	Weak transcription	HMEC	breast
35	chr8:48597400-48610200	Weak transcription	HSMM	muscle
36	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:48597800-48612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
39	chr8:48599400-48604000	Weak transcription	Liver	Liver
40	chr8:48599400-48606000	Weak transcription	Psoas Muscle	Psoas
41	chr8:48600000-48612600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:48600400-48612600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:48600400-48612600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:48600400-48612800	Weak transcription	Dnd41	blood
45	chr8:48600600-48602000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:48600800-48612800	Weak transcription	Fetal Intestine Large	intestine
48	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:48601200-48602400	Enhancers	Placenta	Placenta
50	chr8:48601200-48602400	Enhancers	Lung	lung

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