Variant report

Variant	rs12992737
Chromosome Location	chr2:63554460-63554461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10169209	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10169292	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10173637	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201254	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10207356	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10209822	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125957	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125965	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125967	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11675647	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684108	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685910	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686044	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691166	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691357	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11691718	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11883730	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11894445	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12151606	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12612773	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12618974	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12623431	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713476	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713477	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713478	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12994711	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13011799	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13020171	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13387839	0.83[EUR][1000 genomes]
rs1356389	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1400686	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1400687	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1400688	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1517401	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1517402	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1517404	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1517405	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1517409	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1568175	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1589092	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607203	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607204	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607205	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607206	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1607207	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17408652	0.83[ASN][1000 genomes]
rs17408841	0.83[ASN][1000 genomes]
rs17432775	0.83[ASN][1000 genomes]
rs1829261	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1922421	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2030188	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2030189	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2030190	0.89[EUR][1000 genomes]
rs2090478	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2090479	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176416	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2176417	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2176418	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2263636	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292794	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292795	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421862	0.83[ASN][1000 genomes]
rs2421881	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421883	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421884	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421886	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2421887	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2464042	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677436	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2677437	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677438	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677442	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699388	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699389	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699390	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699391	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2699399	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2901580	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945032	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951185	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951186	0.86[EUR][1000 genomes]
rs2951192	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4313961	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4353635	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4416201	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4428008	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4429457	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4560098	0.87[EUR][1000 genomes]
rs4578846	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4602212	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4611627	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4613259	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4632325	0.85[EUR][1000 genomes]
rs4671468	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671470	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671471	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671472	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671473	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671474	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671476	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671478	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4671479	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671480	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671481	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671482	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671483	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671484	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671485	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671487	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671488	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671494	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62177761	0.90[EUR][1000 genomes]
rs62177762	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62177774	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62177783	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62177793	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62177797	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177820	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62177821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62177824	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62180316	0.83[ASN][1000 genomes]
rs62180317	0.83[ASN][1000 genomes]
rs62180320	0.83[ASN][1000 genomes]
rs6545984	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545985	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545986	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545988	0.90[EUR][1000 genomes]
rs6545989	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545991	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545992	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6545997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6546000	0.84[EUR][1000 genomes]
rs6546001	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6546002	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6704562	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6705322	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6705776	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6706180	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6706424	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6708627	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6708847	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6709115	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6711248	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6713500	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6714139	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6714298	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6717060	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6724044	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725694	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6728844	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6729132	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6734468	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6736788	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6737820	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6741817	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6744720	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6744815	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6755183	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6755412	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6757463	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6757487	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7349440	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558796	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7558922	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7559137	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7561802	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7567088	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568224	0.83[ASN][1000 genomes]
rs7570649	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7571697	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7582434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7585664	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7591562	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7596446	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7596580	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7599736	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7605113	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7608966	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs908621	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs908622	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs932171	0.88[EUR][1000 genomes]
rs932172	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9967684	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1009191	chr2:63473443-63578508	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1014935	chr2:63545598-63599535	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1012628	chr2:63545598-63604859	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1013613	chr2:63545598-63606689	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12992737	MDH1	cis	Adipose Subcutaneous	GTEx
rs12992737	WDPCP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63531000-63571400	Weak transcription	Left Ventricle	heart
2	chr2:63551800-63560400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:63552600-63555400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:63552600-63571400	Weak transcription	Ovary	ovary
5	chr2:63552800-63561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:63553000-63573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:63554000-63555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:63554200-63555400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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