Variant report

Variant	rs17520924
Chromosome Location	chr1:186593131-186593132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:193)

rs_ID	r²[population]
rs10489392	0.89[EUR][1000 genomes]
rs10489393	0.89[EUR][1000 genomes]
rs10798041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs10798042	0.86[EUR][1000 genomes]
rs10798044	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798045	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798046	0.89[EUR][1000 genomes]
rs10798047	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798048	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798049	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911861	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs10911863	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10911864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10911866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10911867	0.86[EUR][1000 genomes]
rs10911868	0.86[EUR][1000 genomes]
rs10911869	0.86[EUR][1000 genomes]
rs10911870	0.87[EUR][1000 genomes]
rs10911871	0.89[EUR][1000 genomes]
rs10911872	0.89[EUR][1000 genomes]
rs10911873	0.87[EUR][1000 genomes]
rs10911874	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10911876	1.00[CEU][hapmap]
rs10911878	0.93[CEU][hapmap]
rs10911879	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911880	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10911882	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911883	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911884	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911885	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911887	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911889	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911903	0.85[ASN][1000 genomes]
rs10911904	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs10911905	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs10911909	0.85[ASN][1000 genomes]
rs1119231	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11484607	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11487358	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11576701	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11578436	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11578514	0.88[EUR][1000 genomes]
rs11578546	0.89[EUR][1000 genomes]
rs11583191	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs11584118	0.85[ASN][1000 genomes]
rs11585033	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585801	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589235	0.88[EUR][1000 genomes]
rs11589637	0.88[EUR][1000 genomes]
rs11590457	0.86[EUR][1000 genomes]
rs12057695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061722	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062166	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12062679	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062743	0.88[EUR][1000 genomes]
rs12071770	0.88[EUR][1000 genomes]
rs12072014	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12076100	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12077211	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078657	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12080265	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12081060	0.88[EUR][1000 genomes]
rs12081510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12085604	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12085848	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085968	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12089016	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12089049	0.85[ASN][1000 genomes]
rs12089127	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089415	0.88[EUR][1000 genomes]
rs12092372	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12094398	0.89[EUR][1000 genomes]
rs12096518	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12097208	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401657	0.87[EUR][1000 genomes]
rs12402484	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12402766	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402797	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403185	0.92[ASN][1000 genomes]
rs12403321	0.83[EUR][1000 genomes]
rs12404135	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12404145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12405141	0.92[ASN][1000 genomes]
rs12405541	0.85[ASN][1000 genomes]
rs12405919	0.92[ASN][1000 genomes]
rs12406189	0.86[EUR][1000 genomes]
rs12406209	0.86[EUR][1000 genomes]
rs12407957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs12408222	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408912	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409263	0.88[EUR][1000 genomes]
rs12410237	0.86[EUR][1000 genomes]
rs12410549	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319120	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1569879	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825452	0.87[EUR][1000 genomes]
rs16825469	0.88[EUR][1000 genomes]
rs1882926	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs1929095	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs1997977	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038225	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs20417	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2066826	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs2143416	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[MEX][hapmap]
rs2143417	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[MEX][hapmap]
rs2179555	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2207728	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383385	0.88[EUR][1000 genomes]
rs2383386	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2383504	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383505	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2383511	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383516	0.85[ASN][1000 genomes]
rs2891247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34869216	0.86[EUR][1000 genomes]
rs34898353	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34975495	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35066734	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs35999012	0.88[EUR][1000 genomes]
rs3851884	0.88[EUR][1000 genomes]
rs3851886	0.88[EUR][1000 genomes]
rs3863719	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3934200	0.88[EUR][1000 genomes]
rs4648250	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4648276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs4648306	0.85[ASN][1000 genomes]
rs55812689	0.87[EUR][1000 genomes]
rs56767915	0.87[EUR][1000 genomes]
rs57390268	0.88[EUR][1000 genomes]
rs57468285	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58982724	0.87[EUR][1000 genomes]
rs59516785	0.89[EUR][1000 genomes]
rs59665821	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682317	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60982539	0.83[EUR][1000 genomes]
rs61101909	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61532952	0.85[ASN][1000 genomes]
rs6425031	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425032	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425033	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66494422	0.85[ASN][1000 genomes]
rs6669319	0.84[EUR][1000 genomes]
rs6671561	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672638	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs6677885	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679923	0.85[EUR][1000 genomes]
rs66850891	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687784	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6690318	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692629	0.85[EUR][1000 genomes]
rs6698923	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67143595	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67203540	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362011	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67396678	0.88[EUR][1000 genomes]
rs67488110	0.88[EUR][1000 genomes]
rs67588474	0.89[EUR][1000 genomes]
rs67607835	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67744944	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67777998	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67804662	0.85[ASN][1000 genomes]
rs68096880	0.85[ASN][1000 genomes]
rs68164021	0.88[EUR][1000 genomes]
rs72719487	0.88[EUR][1000 genomes]
rs72719500	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72719501	0.88[EUR][1000 genomes]
rs72721517	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721521	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721544	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048464	0.87[EUR][1000 genomes]
rs73048477	0.89[EUR][1000 genomes]
rs73052465	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521968	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522862	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523747	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525586	0.88[EUR][1000 genomes]
rs7526069	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7534971	0.88[EUR][1000 genomes]
rs7538407	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542810	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544457	0.88[EUR][1000 genomes]
rs7545438	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548600	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550585	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7550953	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7555973	0.88[EUR][1000 genomes]
rs765799	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964571	0.85[ASN][1000 genomes]
rs9659276	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783017	0.85[ASN][1000 genomes]
rs9804178	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186588000-186594800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:186588200-186595800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186590200-186594800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:186591000-186594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:186591000-186594800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:186591000-186594800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:186591200-186594800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:186591200-186595200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:186591200-186596200	Weak transcription	Osteobl	bone
11	chr1:186591800-186596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:186592000-186593200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:186592600-186602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:186592800-186593400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:186592800-186597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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