Variant report

Variant	rs4703617
Chromosome Location	chr5:70908492-70908493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs157192	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs157193	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs166758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs175871	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277927	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs277935	0.83[EUR][1000 genomes]
rs277951	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277953	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277956	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277975	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs277977	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277982	0.81[ASN][1000 genomes]
rs277983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277984	0.89[ASN][1000 genomes]
rs277987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277989	0.87[ASN][1000 genomes]
rs277990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277992	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs277993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277994	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277998	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs282357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs368462	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs412766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs457539	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
3	chr5:70893400-70916600	Weak transcription	Gastric	stomach
4	chr5:70893600-70930200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:70894000-70916400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:70895800-70910800	Weak transcription	Spleen	Spleen
7	chr5:70895800-70911600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:70895800-70937800	Weak transcription	Colonic Mucosa	Colon
9	chr5:70897000-70908600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:70897000-70925800	Weak transcription	Right Ventricle	heart
11	chr5:70897200-70910800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:70897200-70911800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:70897200-70911800	Weak transcription	Fetal Brain Female	brain
14	chr5:70897200-70916600	Weak transcription	Esophagus	oesophagus
15	chr5:70897200-70930000	Weak transcription	Psoas Muscle	Psoas
16	chr5:70897400-70911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:70897400-70921000	Weak transcription	Fetal Heart	heart
18	chr5:70897400-70933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:70897600-70910800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:70897600-70911400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:70897600-70911800	Weak transcription	Pancreas	Pancrea
22	chr5:70897800-70911400	Weak transcription	HSMMtube	muscle
23	chr5:70897800-70916400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:70897800-70944800	Weak transcription	Small Intestine	intestine
25	chr5:70898200-70944200	Weak transcription	Osteobl	bone
26	chr5:70898400-70935400	Weak transcription	NHDF-Ad	bronchial
27	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:70898600-70915800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:70898600-70922400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:70898600-70948400	Weak transcription	Brain Germinal Matrix	brain
31	chr5:70899600-70911800	Weak transcription	Lung	lung
32	chr5:70900000-70944800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:70900200-70908600	Weak transcription	Left Ventricle	heart
34	chr5:70900200-70911000	Weak transcription	HepG2	liver
35	chr5:70900200-70912000	Weak transcription	A549	lung
36	chr5:70900200-70912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:70900200-70912400	Weak transcription	HSMM	muscle
38	chr5:70900200-70916600	Weak transcription	Hela-S3	cervix
39	chr5:70900200-70925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:70900200-70928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:70900200-70930800	Weak transcription	HMEC	breast
42	chr5:70900200-70945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:70900400-70908600	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:70900400-70908600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:70900400-70910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:70900400-70910800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:70900400-70910800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:70900400-70910800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:70900400-70911200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:70900400-70911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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