Variant report

Variant	rs1345022
Chromosome Location	chr9:21785304-21785305
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10118262	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10119658	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738595	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10738597	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10738599	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10757236	0.80[EUR][1000 genomes]
rs10757238	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757239	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757240	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757241	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757242	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10757243	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757245	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757247	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10757250	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10757251	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10757252	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10757253	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10757254	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10757255	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10811595	0.80[EUR][1000 genomes]
rs10811600	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10811601	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10811602	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10811604	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10811605	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10811613	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10811615	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10811617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10811618	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10965122	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10965127	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12344842	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335502	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1335505	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1335506	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1335507	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1335508	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1335512	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1345025	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1345027	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1372057	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1372058	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1372059	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414228	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1414229	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1414236	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414237	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414238	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414240	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414241	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414242	0.88[CEU][hapmap];0.89[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414244	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1414245	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414246	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414247	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414248	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414249	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414250	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414251	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414252	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414256	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414257	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1440993	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1542074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1542075	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1542076	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1556696	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1556697	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1561651	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1561652	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17833407	0.83[CHB][hapmap]
rs1889680	0.85[JPT][hapmap]
rs1932237	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965153	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2027162	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2027163	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2043991	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2119466	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2119467	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2123338	0.85[JPT][hapmap]
rs2152272	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2152273	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2165408	0.90[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap]
rs2165411	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2184551	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2218220	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2891159	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2891160	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3849929	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3927737	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3928894	0.90[ASW][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300088	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4350062	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4352937	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4364717	1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4384075	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4431674	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4548267	0.96[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4636294	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6475555	0.80[EUR][1000 genomes]
rs6475564	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6475566	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475568	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475569	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6475571	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6475572	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6475574	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6475576	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6475578	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6475579	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6475585	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7018772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7019601	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7021012	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7021538	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7022856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7023299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7023474	0.91[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7023680	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7024027	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7027989	0.91[ASW][hapmap];0.84[CEU][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7028913	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7029040	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7029166	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7029274	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7033503	0.84[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7036249	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7036257	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7037577	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7038708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7043827	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7045768	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72691561	0.92[ASN][1000 genomes]
rs72691562	0.92[ASN][1000 genomes]
rs72691563	0.93[ASN][1000 genomes]
rs72691564	0.93[ASN][1000 genomes]
rs7846749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7850446	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7852450	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7852710	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7852900	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7853131	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7854018	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7854222	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7855242	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7856941	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7858991	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7860576	0.80[EUR][1000 genomes]
rs7866540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7866787	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7866885	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7871345	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7874319	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs869329	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs869330	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871024	0.91[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9298823	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9298824	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9298825	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs935053	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935055	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs950770	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs958219	0.82[EUR][1000 genomes]
rs9644821	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9644858	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9886831	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1026981	chr9:21748202-21811697	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv1016579	chr9:21756285-21785335	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1345022	MTAP	cis	multi-tissue	Pritchard
rs1345022	MLLT3	cis	cerebellum	SCAN
rs1345022	MTAP	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21779600-21788800	Weak transcription	NHDF-Ad	bronchial
2	chr9:21779800-21788600	Weak transcription	NH-A	brain
3	chr9:21780200-21788600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:21782600-21787600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:21782600-21787800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:21782600-21788000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:21783400-21785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:21783400-21788200	Weak transcription	Hela-S3	cervix
9	chr9:21785000-21785400	Enhancers	NHEK	skin
10	chr9:21785200-21785800	Enhancers	HMEC	breast

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