Variant report

Variant	rs10962995
Chromosome Location	chr9:17280999-17281000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10115784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10511633	0.81[JPT][hapmap]
rs10738475	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10756879	0.85[CEU][hapmap]
rs10962922	0.81[JPT][hapmap]
rs10962924	0.81[JPT][hapmap]
rs10962939	0.81[JPT][hapmap]
rs10962957	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10962978	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10963056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10963070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10963103	0.92[CEU][hapmap]
rs10963105	1.00[CEU][hapmap]
rs1113379	0.81[JPT][hapmap]
rs1113380	0.81[JPT][hapmap]
rs1113381	0.95[ASN][1000 genomes]
rs12164282	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12235811	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12236166	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12236896	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12237062	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap]
rs12238680	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12346397	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1372704	1.00[CEU][hapmap]
rs1413418	0.81[JPT][hapmap]
rs1413419	0.81[JPT][hapmap]
rs1576958	0.81[JPT][hapmap]
rs1582029	0.81[JPT][hapmap]
rs1583985	1.00[CEU][hapmap]
rs16935416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1759452	0.81[JPT][hapmap]
rs1759453	0.81[JPT][hapmap]
rs1759458	0.81[JPT][hapmap]
rs1759459	0.81[JPT][hapmap]
rs1759460	0.81[JPT][hapmap]
rs1759462	0.81[JPT][hapmap]
rs1759463	0.81[JPT][hapmap]
rs1759615	0.92[ASN][1000 genomes]
rs1759616	0.81[JPT][hapmap]
rs1930639	0.81[JPT][hapmap]
rs1930641	0.81[JPT][hapmap]
rs2039413	0.81[CEU][hapmap]
rs2083694	1.00[CEU][hapmap]
rs2274916	0.92[CEU][hapmap];1.00[GIH][hapmap]
rs2441991	1.00[CEU][hapmap]
rs2584539	1.00[CEU][hapmap]
rs2584548	1.00[CEU][hapmap]
rs2593397	1.00[CEU][hapmap]
rs2593418	1.00[CEU][hapmap]
rs2774623	0.81[JPT][hapmap]
rs2780203	1.00[CEU][hapmap]
rs2780204	0.81[JPT][hapmap]
rs2780205	0.81[JPT][hapmap]
rs2780213	1.00[CEU][hapmap]
rs2815173	0.81[JPT][hapmap]
rs2815175	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap]
rs3119848	0.81[JPT][hapmap]
rs3739489	0.92[CEU][hapmap];1.00[GIH][hapmap]
rs3808782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808785	0.81[JPT][hapmap]
rs3814137	0.81[JPT][hapmap]
rs3814139	0.81[JPT][hapmap]
rs4147023	0.81[JPT][hapmap]
rs4289910	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs4554574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4621917	0.81[JPT][hapmap]
rs4961534	0.81[JPT][hapmap]
rs4961554	0.81[JPT][hapmap]
rs55863214	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs585682	0.80[JPT][hapmap]
rs600041	0.81[JPT][hapmap]
rs600133	0.81[JPT][hapmap]
rs613966	0.81[JPT][hapmap]
rs614412	0.81[JPT][hapmap]
rs614471	0.81[JPT][hapmap]
rs620280	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs632176	0.81[JPT][hapmap]
rs634383	0.81[JPT][hapmap]
rs634446	0.81[JPT][hapmap]
rs642582	0.81[JPT][hapmap]
rs646025	0.81[JPT][hapmap]
rs647013	0.81[JPT][hapmap]
rs6475122	0.81[JPT][hapmap]
rs6475123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6475125	0.81[JPT][hapmap]
rs6475126	0.91[ASN][1000 genomes]
rs6475129	0.81[JPT][hapmap]
rs6475140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs659637	0.96[ASN][1000 genomes]
rs664447	0.81[JPT][hapmap]
rs673587	0.81[JPT][hapmap]
rs7020918	0.81[JPT][hapmap]
rs7027539	0.81[JPT][hapmap]
rs7028582	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7031361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7034768	0.81[JPT][hapmap]
rs7035525	0.86[JPT][hapmap]
rs7042700	0.81[JPT][hapmap]
rs7043703	0.81[JPT][hapmap]
rs7046327	0.81[JPT][hapmap]
rs7047093	0.81[JPT][hapmap]
rs7862336	0.86[ASN][1000 genomes]
rs7864296	0.81[JPT][hapmap]
rs7865807	0.81[JPT][hapmap]
rs7870334	1.00[CEU][hapmap]
rs870270	0.81[JPT][hapmap]
rs9657595	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv892662	chr9:17168867-17329964	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1031269	chr9:17204320-17316969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv466270	chr9:17236376-17377629	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv613694	chr9:17236376-17377629	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv892663	chr9:17243746-17329964	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv892664	chr9:17250170-17296630	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv892665	chr9:17250170-17371690	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv892667	chr9:17269437-17296630	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv613695	chr9:17273731-17348412	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
2	chr9:17272800-17293000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:17273200-17301800	Weak transcription	Dnd41	blood
4	chr9:17274800-17323200	Weak transcription	Aorta	Aorta
5	chr9:17275400-17281400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:17276000-17283400	Weak transcription	A549	lung
7	chr9:17276400-17281200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr9:17276800-17284000	Weak transcription	Fetal Stomach	stomach
9	chr9:17277000-17293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:17277400-17284000	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:17278400-17281200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:17278400-17293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:17278800-17284200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:17279200-17281200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr9:17279200-17281400	Weak transcription	Adipose Nuclei	Adipose
16	chr9:17279400-17281000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:17279600-17282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:17279600-17292800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:17279800-17281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:17279800-17282200	Strong transcription	Fetal Lung	lung
21	chr9:17280000-17281000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:17280000-17281800	Weak transcription	Ovary	ovary
23	chr9:17280400-17281200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:17280400-17281600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:17280400-17281800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:17280400-17281800	Strong transcription	Liver	Liver
27	chr9:17280600-17281000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:17280600-17281000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr9:17280600-17281000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:17280800-17281200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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