Variant report

Variant	rs2593397
Chromosome Location	chr9:17451550-17451551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10115784	1.00[CEU][hapmap]
rs10117379	0.85[ASN][1000 genomes]
rs10119233	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10119863	0.85[ASN][1000 genomes]
rs10119902	0.85[ASN][1000 genomes]
rs10120006	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10120013	0.85[ASN][1000 genomes]
rs10120733	0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10120761	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10125886	0.85[ASN][1000 genomes]
rs1023778	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10738477	0.85[ASN][1000 genomes]
rs10756879	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10810783	0.82[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10962995	1.00[CEU][hapmap]
rs10963056	1.00[CEU][hapmap]
rs10963067	1.00[CEU][hapmap]
rs10963070	1.00[CEU][hapmap]
rs10963081	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10963085	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10963088	0.87[ASN][1000 genomes]
rs10963103	0.92[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963105	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1113379	0.80[JPT][hapmap]
rs1113380	0.81[JPT][hapmap]
rs12235811	0.92[CEU][hapmap]
rs1318162	0.83[JPT][hapmap]
rs1372698	0.81[AMR][1000 genomes]
rs1372700	0.85[ASN][1000 genomes]
rs1372704	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1413418	0.81[JPT][hapmap]
rs1413419	0.81[JPT][hapmap]
rs1442518	0.85[ASN][1000 genomes]
rs1442520	0.85[ASN][1000 genomes]
rs1442521	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1442522	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1442525	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1442526	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1583985	1.00[CEU][hapmap]
rs1759452	0.81[JPT][hapmap]
rs1759453	0.81[JPT][hapmap]
rs1759458	0.80[JPT][hapmap]
rs1759459	0.81[JPT][hapmap]
rs1759460	0.81[JPT][hapmap]
rs1759462	0.81[JPT][hapmap]
rs1759463	0.81[JPT][hapmap]
rs1759616	0.81[JPT][hapmap]
rs1930639	0.81[JPT][hapmap]
rs1930641	0.80[JPT][hapmap]
rs1930647	0.82[ASN][1000 genomes]
rs1930648	0.85[ASN][1000 genomes]
rs2083694	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119906	0.85[ASN][1000 genomes]
rs2119907	0.80[ASN][1000 genomes]
rs2274916	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2441991	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584539	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584546	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2584548	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2584549	0.87[ASN][1000 genomes]
rs2584550	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2584551	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2584552	0.86[EUR][1000 genomes]
rs2593388	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2593389	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2593390	0.85[ASN][1000 genomes]
rs2593416	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593418	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780200	0.85[YRI][hapmap]
rs2780203	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2780204	0.80[JPT][hapmap]
rs2780205	0.81[JPT][hapmap]
rs2780208	0.84[ASN][1000 genomes]
rs2780210	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2780211	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2780213	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2780214	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3739488	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3739489	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808781	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3808782	1.00[CEU][hapmap]
rs3808785	0.81[JPT][hapmap]
rs4554574	1.00[CEU][hapmap]
rs4621917	0.80[JPT][hapmap]
rs4961551	0.82[JPT][hapmap]
rs4961554	0.80[JPT][hapmap]
rs4961556	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5001765	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600041	0.80[JPT][hapmap]
rs600133	0.80[JPT][hapmap]
rs613966	0.80[JPT][hapmap]
rs614412	0.81[JPT][hapmap]
rs614471	0.80[JPT][hapmap]
rs620280	0.92[CEU][hapmap]
rs632176	0.81[JPT][hapmap]
rs634383	0.81[JPT][hapmap]
rs634446	0.81[JPT][hapmap]
rs642582	0.81[JPT][hapmap]
rs646025	0.80[JPT][hapmap]
rs647013	0.81[JPT][hapmap]
rs6475129	0.80[JPT][hapmap]
rs6475140	1.00[CEU][hapmap]
rs664447	0.80[JPT][hapmap]
rs673587	0.81[JPT][hapmap]
rs7020918	0.81[JPT][hapmap]
rs7023305	0.85[ASN][1000 genomes]
rs7023540	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7026207	0.84[YRI][hapmap]
rs7027292	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7027539	0.80[JPT][hapmap]
rs7031361	1.00[CEU][hapmap]
rs7035276	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7035357	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7042700	0.80[JPT][hapmap]
rs7047093	0.81[JPT][hapmap]
rs7851688	0.86[YRI][hapmap]
rs7865807	0.81[JPT][hapmap]
rs7870334	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7870427	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7872910	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7874945	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs870270	0.80[JPT][hapmap]
rs9298777	0.85[ASN][1000 genomes]
rs9298778	0.84[ASN][1000 genomes]
rs9657595	0.92[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][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	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892668	chr9:17371690-17532840	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892670	chr9:17378776-17507277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv523411	chr9:17394536-17454799	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
2	chr9:17411800-17481000	Weak transcription	Aorta	Aorta
3	chr9:17426400-17466800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:17431000-17453400	Weak transcription	Fetal Lung	lung
5	chr9:17434000-17453600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:17434000-17453600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:17439400-17466800	Weak transcription	NHDF-Ad	bronchial
8	chr9:17440400-17494600	Weak transcription	Left Ventricle	heart
9	chr9:17441200-17458000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:17441200-17467000	Weak transcription	Adipose Nuclei	Adipose
11	chr9:17441400-17466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:17442000-17491800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:17442200-17467200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:17445400-17452200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:17446000-17467400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:17447400-17452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:17448000-17452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:17448000-17457600	Weak transcription	Liver	Liver
19	chr9:17448000-17466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:17448000-17503400	Weak transcription	Ovary	ovary
21	chr9:17448400-17496400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:17448600-17495800	Weak transcription	Dnd41	blood
23	chr9:17449200-17452000	Weak transcription	HUVEC	blood vessel

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