Variant report

Variant	rs2693528
Chromosome Location	chr3:158041455-158041456
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158037308..158039450-chr3:158039915..158041897,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1070894	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1095629	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1095630	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1095633	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1095634	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11706229	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11707696	0.95[ASN][1000 genomes]
rs11719388	0.97[ASN][1000 genomes]
rs1193511	0.81[CEU][hapmap]
rs1210358	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12485440	0.81[CEU][hapmap]
rs13059066	0.81[CEU][hapmap]
rs13060100	0.96[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs13061378	0.81[CEU][hapmap]
rs13072413	0.92[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13086348	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1581412	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs1589526	0.92[CEU][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs1589528	0.87[EUR][1000 genomes]
rs1608968	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[EUR][1000 genomes]
rs1609523	0.87[EUR][1000 genomes]
rs1609524	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1609525	0.81[CEU][hapmap]
rs1610269	0.96[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs1618377	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1618381	0.93[AFR][1000 genomes]
rs1624094	0.94[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1724676	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1724677	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1724727	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1724728	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1724729	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1729997	0.94[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1729999	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1730032	0.81[CEU][hapmap]
rs1730043	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1730054	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1730100	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1915935	0.81[CEU][hapmap]
rs2682397	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2693541	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2693546	0.84[CEU][hapmap]
rs4261833	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4271876	0.96[CEU][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs4318510	0.92[CEU][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs4320039	0.88[EUR][1000 genomes]
rs4320040	0.88[EUR][1000 genomes]
rs4336069	0.87[EUR][1000 genomes]
rs4396839	0.88[EUR][1000 genomes]
rs4410410	0.89[EUR][1000 genomes]
rs4431056	0.84[CEU][hapmap]
rs4558712	0.96[CEU][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs4561782	0.88[EUR][1000 genomes]
rs4679821	0.96[CEU][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs4679823	0.87[EUR][1000 genomes]
rs4680411	0.84[CEU][hapmap]
rs4680412	0.84[CEU][hapmap]
rs4680417	0.87[EUR][1000 genomes]
rs4680418	0.86[EUR][1000 genomes]
rs57361244	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441175	0.87[EUR][1000 genomes]
rs6441176	0.88[EUR][1000 genomes]
rs6441177	0.87[EUR][1000 genomes]
rs6762154	0.88[EUR][1000 genomes]
rs6768496	0.96[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs6776109	0.87[EUR][1000 genomes]
rs6777853	0.96[CEU][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6777968	0.88[EUR][1000 genomes]
rs6786057	0.88[EUR][1000 genomes]
rs6787072	0.87[EUR][1000 genomes]
rs6802443	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs6803342	0.87[EUR][1000 genomes]
rs696715	0.81[CEU][hapmap]
rs698975	0.81[CEU][hapmap]
rs698976	0.81[CEU][hapmap]
rs698980	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs698981	0.80[CEU][hapmap]
rs698982	0.81[CEU][hapmap]
rs698986	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs698988	0.92[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs698989	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs698990	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698991	0.93[CHB][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698992	0.81[CEU][hapmap]
rs699916	0.95[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699917	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699918	0.81[CEU][hapmap]
rs699919	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs699921	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs699922	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs699924	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73168795	0.96[ASN][1000 genomes]
rs7614091	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614572	0.81[CEU][hapmap]
rs7617503	0.88[EUR][1000 genomes]
rs7617666	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7621889	0.96[ASN][1000 genomes]
rs7622971	0.81[CEU][hapmap]
rs7623107	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs7628936	0.81[EUR][1000 genomes]
rs7629341	0.86[EUR][1000 genomes]
rs7629432	0.83[EUR][1000 genomes]
rs7642751	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7645383	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs7645475	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7647342	0.81[CEU][hapmap]
rs7648169	0.86[EUR][1000 genomes]
rs7651288	0.82[EUR][1000 genomes]
rs827090	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827091	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs827094	0.90[YRI][hapmap]
rs827104	0.81[CEU][hapmap]
rs827108	0.83[ASW][hapmap];0.85[LWK][hapmap];0.90[YRI][hapmap]
rs827118	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs827120	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs827121	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs827122	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs827123	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs827125	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs827127	0.85[AFR][1000 genomes]
rs827130	0.81[CEU][hapmap]
rs827131	0.85[AFR][1000 genomes]
rs827136	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs827139	0.81[CEU][hapmap]
rs827141	0.81[CEU][hapmap]
rs827142	0.81[CEU][hapmap]
rs827143	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs827148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827150	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827151	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827153	0.80[CEU][hapmap]
rs827155	0.81[CEU][hapmap]
rs827156	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827158	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827159	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827160	0.81[CEU][hapmap]
rs827161	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827162	0.81[CEU][hapmap]
rs827163	0.89[AFR][1000 genomes]
rs827164	0.85[AFR][1000 genomes]
rs827168	0.81[CEU][hapmap]
rs827169	0.84[EUR][1000 genomes]
rs827170	0.81[CEU][hapmap]
rs827171	0.83[ASW][hapmap];0.85[LWK][hapmap];0.90[YRI][hapmap]
rs827172	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs827173	0.81[CEU][hapmap]
rs827175	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827176	0.86[YRI][hapmap]
rs827187	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827188	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs827801	0.81[CEU][hapmap]
rs827802	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827803	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827804	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827805	0.81[CEU][hapmap]
rs827806	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs827807	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs852110	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs862351	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs862352	0.81[CEU][hapmap]
rs864859	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs866657	0.81[CEU][hapmap]
rs9290021	0.83[CEU][hapmap]
rs9290022	0.89[EUR][1000 genomes]
rs9811346	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs9814827	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9814942	0.86[CEU][hapmap]
rs9838196	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9840667	0.96[CEU][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.80[JPT][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs9848977	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[EUR][1000 genomes]
rs9852745	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9855534	0.86[EUR][1000 genomes]
rs9881063	0.84[CEU][hapmap]

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	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2693528	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:158019200-158041600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:158035600-158047400	Weak transcription	Left Ventricle	heart
4	chr3:158040200-158041800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:158040600-158041600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr3:158041400-158041600	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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