Variant report

Variant	rs12623611
Chromosome Location	chr2:187234198-187234199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10172511	0.86[ASN][1000 genomes]
rs10188807	0.84[ASN][1000 genomes]
rs10189971	0.88[ASN][1000 genomes]
rs10193268	0.86[ASN][1000 genomes]
rs10194541	0.86[ASN][1000 genomes]
rs10194719	0.86[ASN][1000 genomes]
rs10196208	0.85[ASN][1000 genomes]
rs10201874	0.80[ASN][1000 genomes]
rs10203879	0.86[ASN][1000 genomes]
rs10205506	0.88[ASN][1000 genomes]
rs10205705	0.88[ASN][1000 genomes]
rs10210844	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1026118	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10439308	0.84[ASN][1000 genomes]
rs10804003	0.84[ASN][1000 genomes]
rs10804004	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931239	0.86[ASN][1000 genomes]
rs10931242	0.86[ASN][1000 genomes]
rs11676936	0.88[ASN][1000 genomes]
rs11683595	0.86[ASN][1000 genomes]
rs11693737	0.85[ASN][1000 genomes]
rs11884786	0.84[ASN][1000 genomes]
rs11889909	0.88[ASN][1000 genomes]
rs12052331	0.84[ASN][1000 genomes]
rs12463831	0.84[ASN][1000 genomes]
rs12464846	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12467212	0.86[ASN][1000 genomes]
rs12467891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469301	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12470370	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12473076	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12473542	0.86[ASN][1000 genomes]
rs12475522	0.85[ASN][1000 genomes]
rs12476313	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477683	0.86[ASN][1000 genomes]
rs12478370	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611673	0.82[ASN][1000 genomes]
rs12612249	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12614800	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12615503	0.84[ASN][1000 genomes]
rs12615675	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619990	0.84[ASN][1000 genomes]
rs12620626	0.84[ASN][1000 genomes]
rs12693444	0.85[ASN][1000 genomes]
rs12693447	0.85[ASN][1000 genomes]
rs12693448	0.88[ASN][1000 genomes]
rs12693449	0.86[ASN][1000 genomes]
rs12993773	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12997583	0.86[JPT][hapmap]
rs12998229	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12999247	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12999438	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003337	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13009502	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13011581	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13015996	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016181	0.99[ASN][1000 genomes]
rs13016273	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13017038	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018467	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023992	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13024310	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025505	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13027135	0.86[ASN][1000 genomes]
rs13029473	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029766	0.85[ASN][1000 genomes]
rs13029818	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13029980	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13030324	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13409734	0.85[ASN][1000 genomes]
rs13421394	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13421948	0.85[ASN][1000 genomes]
rs13426333	0.83[ASN][1000 genomes]
rs1349154	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1375321	0.88[ASN][1000 genomes]
rs1375324	0.86[ASN][1000 genomes]
rs1375325	0.86[ASN][1000 genomes]
rs1375327	0.86[ASN][1000 genomes]
rs1375328	0.86[ASN][1000 genomes]
rs1448851	0.88[ASN][1000 genomes]
rs1448852	0.88[ASN][1000 genomes]
rs1448854	0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1448856	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448858	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448860	0.88[ASN][1000 genomes]
rs1448861	0.86[ASN][1000 genomes]
rs1448863	0.81[ASN][1000 genomes]
rs1451874	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1562646	0.80[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1562647	0.86[ASN][1000 genomes]
rs1900835	0.83[ASN][1000 genomes]
rs1992930	0.84[ASN][1000 genomes]
rs2044919	0.86[JPT][hapmap]
rs2084485	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084486	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2119865	0.86[JPT][hapmap]
rs2122087	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2197816	0.88[ASN][1000 genomes]
rs2305409	0.86[JPT][hapmap]
rs2370667	0.82[ASN][1000 genomes]
rs2370691	0.88[ASN][1000 genomes]
rs2370692	0.86[ASN][1000 genomes]
rs28498768	0.85[ASN][1000 genomes]
rs28810795	0.86[AMR][1000 genomes]
rs2887819	0.82[ASN][1000 genomes]
rs3107167	0.85[ASN][1000 genomes]
rs3107177	0.82[ASN][1000 genomes]
rs3107406	0.84[ASN][1000 genomes]
rs3107414	0.84[ASN][1000 genomes]
rs3112322	0.92[ASN][1000 genomes]
rs34229945	0.81[ASN][1000 genomes]
rs3768775	0.86[JPT][hapmap]
rs3768776	0.86[JPT][hapmap]
rs4016824	0.80[ASN][1000 genomes]
rs4130801	0.83[ASN][1000 genomes]
rs4144785	0.88[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4144824	0.84[ASN][1000 genomes]
rs4271735	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4305232	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4341896	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363995	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4430906	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4522568	0.83[ASN][1000 genomes]
rs4530331	0.84[ASN][1000 genomes]
rs4569437	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4608482	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4637073	0.82[ASN][1000 genomes]
rs4666701	0.86[ASN][1000 genomes]
rs4666703	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666705	0.86[JPT][hapmap]
rs4667079	0.84[ASN][1000 genomes]
rs4667080	0.84[ASN][1000 genomes]
rs4667081	0.86[ASN][1000 genomes]
rs4667086	0.86[ASN][1000 genomes]
rs4667089	0.84[ASN][1000 genomes]
rs4667090	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667092	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667095	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667100	0.90[JPT][hapmap]
rs4667102	0.86[JPT][hapmap]
rs5008098	0.82[ASN][1000 genomes]
rs56347348	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56393956	0.84[ASN][1000 genomes]
rs56681734	0.85[ASN][1000 genomes]
rs56718299	0.84[ASN][1000 genomes]
rs56786415	0.82[ASN][1000 genomes]
rs57289110	0.84[ASN][1000 genomes]
rs58244659	0.84[ASN][1000 genomes]
rs58488407	0.82[ASN][1000 genomes]
rs58579412	0.84[ASN][1000 genomes]
rs58783284	0.85[ASN][1000 genomes]
rs59087873	0.83[ASN][1000 genomes]
rs59224241	0.84[ASN][1000 genomes]
rs59276018	0.85[ASN][1000 genomes]
rs59360834	0.83[ASN][1000 genomes]
rs60859807	0.84[ASN][1000 genomes]
rs61083860	0.84[ASN][1000 genomes]
rs61253791	0.84[ASN][1000 genomes]
rs6434170	0.86[ASN][1000 genomes]
rs6434171	0.88[ASN][1000 genomes]
rs6434179	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434182	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434183	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66593320	0.84[ASN][1000 genomes]
rs6704957	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712627	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6715735	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6717081	0.86[JPT][hapmap]
rs6717965	0.86[ASN][1000 genomes]
rs6728734	0.86[ASN][1000 genomes]
rs6740632	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs6741525	0.84[ASN][1000 genomes]
rs6742943	0.87[ASN][1000 genomes]
rs6743356	0.95[ASN][1000 genomes]
rs6744814	0.85[ASN][1000 genomes]
rs6745187	0.84[ASN][1000 genomes]
rs6745873	0.86[ASN][1000 genomes]
rs6752407	0.81[ASN][1000 genomes]
rs6754179	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6754898	0.84[ASN][1000 genomes]
rs6755955	0.86[ASN][1000 genomes]
rs6759502	0.81[ASN][1000 genomes]
rs6760230	0.84[ASN][1000 genomes]
rs67917059	0.83[ASN][1000 genomes]
rs716130	0.86[ASN][1000 genomes]
rs72907565	0.84[ASN][1000 genomes]
rs73035230	0.82[ASN][1000 genomes]
rs73035235	0.84[ASN][1000 genomes]
rs73035261	0.84[ASN][1000 genomes]
rs7558599	0.86[ASN][1000 genomes]
rs7560019	0.85[ASN][1000 genomes]
rs7562659	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs7568700	0.86[JPT][hapmap]
rs7571191	0.84[ASN][1000 genomes]
rs7571408	0.85[ASN][1000 genomes]
rs7573296	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7579391	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7580038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581081	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7586276	0.88[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586291	0.81[ASN][1000 genomes]
rs7587077	0.82[ASN][1000 genomes]
rs7587079	0.83[ASN][1000 genomes]
rs7593093	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7597285	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602918	0.86[ASN][1000 genomes]
rs7606494	0.88[ASN][1000 genomes]
rs980540	0.88[ASN][1000 genomes]
rs9807987	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1006411	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536079	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv961744	chr2:187189976-187265519	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv3071	chr2:187208040-187252682	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12623611	KIAA0391	trans	parietal	SCAN
rs12623611	ITGAV	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187214400-187239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187234000-187234200	Enhancers	Left Ventricle	heart

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