Variant report

Variant	rs62539147
Chromosome Location	chr8:48596581-48596582
allele	A/G
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	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10957644	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10958058	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11778548	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782572	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784823	0.89[EUR][1000 genomes]
rs12544329	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12549996	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12675378	0.91[EUR][1000 genomes]
rs12678110	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16928696	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129617	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2129618	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2130412	0.90[EUR][1000 genomes]
rs2130413	0.91[EUR][1000 genomes]
rs4489323	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536257	0.84[EUR][1000 genomes]
rs4608108	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873368	0.88[EUR][1000 genomes]
rs4873395	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873399	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873437	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873507	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873529	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873619	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55941013	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56092229	0.89[EUR][1000 genomes]
rs62539116	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62539144	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62539150	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982620	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6987043	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989917	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014443	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs876915	0.88[EUR][1000 genomes]
rs923499	0.88[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:59 , 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	chr8:48592800-48597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48593000-48601200	Weak transcription	Lung	lung
15	chr8:48593000-48605600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48593000-48612800	Weak transcription	Spleen	Spleen
17	chr8:48593200-48612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
19	chr8:48593600-48599000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:48593600-48600200	Weak transcription	Placenta	Placenta
21	chr8:48593600-48606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:48593600-48606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:48593600-48612800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:48593600-48613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:48593800-48600200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:48593800-48609200	Weak transcription	Esophagus	oesophagus
27	chr8:48594000-48599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:48594400-48596800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:48594400-48597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:48594400-48597600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:48594600-48596600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:48594600-48596600	Enhancers	HSMMtube	muscle
33	chr8:48594600-48597400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:48594600-48597400	Enhancers	HSMM	muscle
35	chr8:48594600-48597600	Enhancers	NHDF-Ad	bronchial
36	chr8:48594600-48597800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:48594800-48597200	Enhancers	HMEC	breast
38	chr8:48594800-48597400	Enhancers	Osteobl	bone
39	chr8:48595400-48597600	Enhancers	A549	lung
40	chr8:48595600-48601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:48595800-48596600	Enhancers	Right Atrium	heart
42	chr8:48595800-48596800	Weak transcription	Fetal Kidney	kidney
43	chr8:48595800-48596800	Weak transcription	NHEK	skin
44	chr8:48595800-48597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:48595800-48597000	Enhancers	Ovary	ovary
46	chr8:48596000-48596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:48596000-48599600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:48596000-48603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:48596000-48604000	Weak transcription	Small Intestine	intestine
50	chr8:48596000-48604200	Weak transcription	Left Ventricle	heart

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