Variant report

Variant	rs620280
Chromosome Location	chr9:17302171-17302172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10115784	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10120733	0.80[YRI][hapmap]
rs1023778	0.83[YRI][hapmap]
rs10511633	0.92[YRI][hapmap]
rs10738475	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10756862	0.95[AFR][1000 genomes]
rs10756864	0.95[AFR][1000 genomes]
rs10756879	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs10962908	0.81[AFR][1000 genomes]
rs10962918	0.81[AFR][1000 genomes]
rs10962941	0.84[YRI][hapmap]
rs10962957	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10962960	0.82[AFR][1000 genomes]
rs10962978	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10962979	0.88[AFR][1000 genomes]
rs10962984	0.88[AFR][1000 genomes]
rs10962995	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10963013	0.96[AFR][1000 genomes]
rs10963056	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963067	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10963070	0.92[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10963103	0.82[CEU][hapmap]
rs10963105	0.92[CEU][hapmap]
rs1113380	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1113381	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11543981	0.82[AFR][1000 genomes]
rs11562139	0.86[AFR][1000 genomes]
rs12164282	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12235811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12236166	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12236896	0.81[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12237062	0.81[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs12238680	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12346397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1348279	0.87[AFR][1000 genomes]
rs1372704	0.92[CEU][hapmap]
rs1413418	0.83[YRI][hapmap]
rs1413419	0.83[YRI][hapmap]
rs1442522	0.80[YRI][hapmap]
rs1442526	0.80[YRI][hapmap]
rs1583985	0.92[CEU][hapmap]
rs16935416	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1759457	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1759458	0.81[YRI][hapmap]
rs1759463	0.83[YRI][hapmap]
rs1759464	0.95[YRI][hapmap]
rs1759615	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1930639	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1930641	1.00[YRI][hapmap]
rs1930644	0.89[AFR][1000 genomes]
rs2010086	0.83[AFR][1000 genomes]
rs2083694	0.92[CEU][hapmap]
rs2083695	0.82[AFR][1000 genomes]
rs2099859	0.82[AFR][1000 genomes]
rs2165688	0.83[AFR][1000 genomes]
rs2274916	0.91[CEU][hapmap]
rs2441991	0.92[CEU][hapmap]
rs2584539	0.92[CEU][hapmap]
rs2584548	0.91[CEU][hapmap]
rs2593397	0.92[CEU][hapmap]
rs2593418	1.00[CEU][hapmap]
rs2774621	0.91[YRI][hapmap]
rs2774622	0.92[YRI][hapmap]
rs2774623	0.92[YRI][hapmap]
rs2774626	0.92[YRI][hapmap]
rs2779771	0.91[YRI][hapmap]
rs2779772	0.92[YRI][hapmap]
rs2779774	0.92[AFR][1000 genomes]
rs2779779	0.96[AFR][1000 genomes]
rs2780203	0.91[CEU][hapmap]
rs2780213	0.91[CEU][hapmap]
rs2815175	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs3739489	0.91[CEU][hapmap];0.92[YRI][hapmap]
rs3808782	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3891457	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4289910	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs4554574	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4621917	0.81[YRI][hapmap]
rs4961551	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4961554	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs55863214	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56402716	0.86[AFR][1000 genomes]
rs601960	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs606382	0.94[AFR][1000 genomes]
rs613966	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs642582	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs646025	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs6475123	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6475126	0.96[ASN][1000 genomes]
rs6475140	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs659637	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs664447	0.81[YRI][hapmap]
rs673587	0.83[YRI][hapmap]
rs7027539	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7028582	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7031361	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7035276	0.80[YRI][hapmap]
rs7035357	0.80[YRI][hapmap]
rs7035525	0.85[JPT][hapmap]
rs7037019	0.83[AFR][1000 genomes]
rs7042700	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7047093	0.89[YRI][hapmap]
rs7862336	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7865807	0.86[YRI][hapmap]
rs7870334	0.91[CEU][hapmap]
rs7874945	0.92[YRI][hapmap]
rs870270	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9407787	1.00[YRI][hapmap]
rs9657595	0.92[CEU][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
15	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
2	chr9:17274800-17323200	Weak transcription	Aorta	Aorta
3	chr9:17284400-17309600	Weak transcription	Ovary	ovary
4	chr9:17284400-17344800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:17284800-17308000	Weak transcription	Fetal Lung	lung
6	chr9:17285000-17311600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:17292200-17367200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:17292400-17303800	Weak transcription	Right Ventricle	heart
9	chr9:17293600-17308600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:17293800-17314200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:17294000-17306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:17294000-17317600	Weak transcription	Liver	Liver
13	chr9:17294000-17334000	Weak transcription	Fetal Stomach	stomach
14	chr9:17294000-17346000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:17294600-17311000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:17297800-17303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:17299400-17312000	Weak transcription	A549	lung
18	chr9:17300800-17318600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:17301200-17332200	Weak transcription	Monocytes-CD14+_RO01746	blood

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