Variant report

Variant	rs622392
Chromosome Location	chr9:17274465-17274466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10114324	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10117379	0.81[EUR][1000 genomes]
rs10119233	0.81[EUR][1000 genomes]
rs10119863	0.81[EUR][1000 genomes]
rs10119902	0.81[EUR][1000 genomes]
rs10120006	0.81[EUR][1000 genomes]
rs10120013	0.81[EUR][1000 genomes]
rs10120733	0.82[EUR][1000 genomes]
rs10120761	0.81[EUR][1000 genomes]
rs10125886	0.81[EUR][1000 genomes]
rs1023778	0.80[EUR][1000 genomes]
rs10738477	0.81[EUR][1000 genomes]
rs10756861	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10756862	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10756863	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10756864	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10756865	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10810753	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10810783	0.81[EUR][1000 genomes]
rs10962922	0.82[EUR][1000 genomes]
rs10962923	0.81[EUR][1000 genomes]
rs10962924	0.81[EUR][1000 genomes]
rs10962926	0.82[EUR][1000 genomes]
rs10962927	0.81[EUR][1000 genomes]
rs10962928	0.82[EUR][1000 genomes]
rs10962932	0.82[EUR][1000 genomes]
rs10962933	0.81[EUR][1000 genomes]
rs10962938	0.82[EUR][1000 genomes]
rs10962940	0.82[EUR][1000 genomes]
rs10962941	0.82[EUR][1000 genomes]
rs10962942	0.82[EUR][1000 genomes]
rs10962960	0.85[EUR][1000 genomes]
rs10962977	0.80[ASN][1000 genomes]
rs10962979	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10962981	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10962983	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10962984	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10962985	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10962986	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10962987	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10962989	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10963010	0.87[EUR][1000 genomes]
rs10963011	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10963012	0.82[ASN][1000 genomes]
rs10963013	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10963014	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10963028	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10963081	0.82[EUR][1000 genomes]
rs1113379	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1113380	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1113381	0.83[EUR][1000 genomes]
rs1113382	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11525918	0.82[EUR][1000 genomes]
rs11531656	0.82[EUR][1000 genomes]
rs11534160	0.82[EUR][1000 genomes]
rs11543981	0.85[EUR][1000 genomes]
rs11562139	0.82[EUR][1000 genomes]
rs12000610	0.82[EUR][1000 genomes]
rs12235987	0.82[EUR][1000 genomes]
rs12237892	0.82[EUR][1000 genomes]
rs12238753	0.82[EUR][1000 genomes]
rs12346397	0.83[EUR][1000 genomes]
rs13288412	0.84[EUR][1000 genomes]
rs13289731	0.82[EUR][1000 genomes]
rs1348279	0.86[EUR][1000 genomes]
rs1372700	0.81[EUR][1000 genomes]
rs1413418	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1413419	0.87[EUR][1000 genomes]
rs1442518	0.81[EUR][1000 genomes]
rs1442521	0.81[EUR][1000 genomes]
rs1442522	0.81[EUR][1000 genomes]
rs1442525	0.81[EUR][1000 genomes]
rs1442526	0.81[EUR][1000 genomes]
rs1576958	0.82[EUR][1000 genomes]
rs1576959	0.82[EUR][1000 genomes]
rs1759452	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759453	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759457	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759458	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759459	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759460	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759461	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759462	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759463	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759465	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759615	0.83[EUR][1000 genomes]
rs1759616	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759617	0.81[EUR][1000 genomes]
rs1759619	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1759626	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1819484	0.82[EUR][1000 genomes]
rs1930639	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1930643	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1930644	0.84[EUR][1000 genomes]
rs1930645	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1930646	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1930647	0.81[EUR][1000 genomes]
rs1930648	0.81[EUR][1000 genomes]
rs2010086	0.85[EUR][1000 genomes]
rs2083695	0.86[EUR][1000 genomes]
rs2095145	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099859	0.86[EUR][1000 genomes]
rs2104914	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2119906	0.81[EUR][1000 genomes]
rs2119907	0.81[EUR][1000 genomes]
rs2483208	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2584546	0.81[EUR][1000 genomes]
rs2593389	0.80[EUR][1000 genomes]
rs2593390	0.81[EUR][1000 genomes]
rs2779774	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779779	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2780204	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2780205	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2780207	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2780214	0.81[EUR][1000 genomes]
rs2990958	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3739488	0.81[EUR][1000 genomes]
rs3808781	0.81[EUR][1000 genomes]
rs3808785	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3814137	0.82[EUR][1000 genomes]
rs3814138	0.81[EUR][1000 genomes]
rs3814139	0.82[EUR][1000 genomes]
rs3891457	0.86[EUR][1000 genomes]
rs4147023	0.81[EUR][1000 genomes]
rs4430173	0.82[EUR][1000 genomes]
rs4621917	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4961551	0.86[EUR][1000 genomes]
rs4961554	0.84[EUR][1000 genomes]
rs4961556	0.81[EUR][1000 genomes]
rs55829722	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56402716	0.84[EUR][1000 genomes]
rs57850734	0.83[EUR][1000 genomes]
rs582134	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs585682	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs593552	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs599626	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600041	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600133	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs601960	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs606382	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs610175	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs613966	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs614412	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs614471	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs619357	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs631300	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs632176	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs632255	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs632313	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs634383	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs634446	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs636093	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642582	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs643776	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs646025	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs647013	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6475122	0.81[EUR][1000 genomes]
rs6475124	0.82[EUR][1000 genomes]
rs6475125	0.82[EUR][1000 genomes]
rs6475126	0.83[EUR][1000 genomes]
rs6475127	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6475128	0.84[EUR][1000 genomes]
rs6475129	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs659637	0.83[EUR][1000 genomes]
rs664447	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs672799	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs673587	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs677490	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs679666	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7018856	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7020918	0.82[EUR][1000 genomes]
rs7021738	0.82[EUR][1000 genomes]
rs7023305	0.81[EUR][1000 genomes]
rs7023540	0.81[EUR][1000 genomes]
rs7025912	0.82[EUR][1000 genomes]
rs7027051	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7027292	0.81[EUR][1000 genomes]
rs7027539	0.84[EUR][1000 genomes]
rs7034768	0.82[EUR][1000 genomes]
rs7035276	0.81[EUR][1000 genomes]
rs7035318	0.82[EUR][1000 genomes]
rs7035357	0.81[EUR][1000 genomes]
rs7035525	0.82[EUR][1000 genomes]
rs7037019	0.82[EUR][1000 genomes]
rs7037041	0.86[EUR][1000 genomes]
rs7037408	0.82[EUR][1000 genomes]
rs7040098	0.82[EUR][1000 genomes]
rs7040666	0.82[EUR][1000 genomes]
rs7042700	0.84[EUR][1000 genomes]
rs7043703	0.82[EUR][1000 genomes]
rs7044254	0.82[EUR][1000 genomes]
rs7044783	0.81[EUR][1000 genomes]
rs7046327	0.82[EUR][1000 genomes]
rs7046951	0.82[EUR][1000 genomes]
rs7047093	0.84[EUR][1000 genomes]
rs7848118	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7862336	0.82[EUR][1000 genomes]
rs7865807	0.84[EUR][1000 genomes]
rs7870427	0.81[EUR][1000 genomes]
rs7874597	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7874945	0.81[EUR][1000 genomes]
rs870270	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9298777	0.81[EUR][1000 genomes]
rs9298778	0.80[EUR][1000 genomes]
rs9406667	0.82[EUR][1000 genomes]
rs9407792	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9407793	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9407794	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9407804	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv892666	chr9:17256043-17280616	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	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
18	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:17262600-17280400	Weak transcription	Liver	Liver
3	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
4	chr9:17268600-17280000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:17270000-17280600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:17271600-17275600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:17272600-17275800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:17272800-17274800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr9:17272800-17279800	Weak transcription	Fetal Lung	lung
10	chr9:17272800-17280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:17272800-17280800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:17272800-17293000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:17273200-17301800	Weak transcription	Dnd41	blood
14	chr9:17274200-17278400	Weak transcription	Colon Smooth Muscle	Colon

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