Variant report

Variant	rs6792350
Chromosome Location	chr3:47838941-47838942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47820857..47823354-chr3:47836932..47839468,2	K562	blood:
2	chr3:47837019..47839098-chr3:47844688..47846302,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1013431	0.84[CEU][hapmap]
rs1014228	0.96[CEU][hapmap]
rs1060407	0.88[CEU][hapmap]
rs1061003	0.83[ASN][1000 genomes]
rs10865948	0.86[AMR][1000 genomes]
rs11130138	0.82[AMR][1000 genomes]
rs11130143	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs11130144	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs11130145	0.91[AMR][1000 genomes]
rs11130146	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs11130147	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130148	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130150	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11707679	0.88[CEU][hapmap]
rs11708849	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11710199	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11712464	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11714942	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11716582	0.85[AMR][1000 genomes]
rs11927129	0.90[EUR][1000 genomes]
rs12492915	0.87[AMR][1000 genomes]
rs12495204	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12497921	0.90[AMR][1000 genomes]
rs12498027	0.90[AMR][1000 genomes]
rs12633604	0.89[AMR][1000 genomes]
rs12635438	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12636863	0.83[AMR][1000 genomes]
rs13061412	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13063042	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13064183	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13070035	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13074973	0.85[CEU][hapmap]
rs13077230	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13079407	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13081356	0.91[AMR][1000 genomes]
rs13084555	0.81[AMR][1000 genomes]
rs13086149	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13091913	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13094264	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13098128	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13319205	0.80[EUR][1000 genomes]
rs1403578	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs1403579	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs1464614	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs1486915	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1684942	0.81[ASN][1000 genomes]
rs17079785	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17290490	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030596	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2047559	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2049301	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2101398	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2133601	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2140335	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs2166770	0.84[CEU][hapmap]
rs2293226	0.85[AMR][1000 genomes]
rs2351248	0.80[CEU][hapmap];0.84[ASN][1000 genomes]
rs2631721	0.83[ASN][1000 genomes]
rs2882611	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs319682	0.88[CEU][hapmap];0.81[ASN][1000 genomes]
rs319692	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs319693	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs319694	0.88[CEU][hapmap];0.87[ASN][1000 genomes]
rs319695	0.88[CEU][hapmap]
rs319696	0.88[CEU][hapmap]
rs34249203	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34351471	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34569417	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34777284	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34906469	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35148469	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35582375	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35664069	0.82[EUR][1000 genomes]
rs35698005	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755637	0.87[AMR][1000 genomes]
rs3755638	0.84[AMR][1000 genomes]
rs3772399	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3772403	0.84[AMR][1000 genomes]
rs3888	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3915654	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4274776	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs4410463	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858801	0.92[CEU][hapmap];0.85[AMR][1000 genomes]
rs4858803	0.84[AMR][1000 genomes]
rs4858836	0.82[AMR][1000 genomes]
rs4858842	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs4858846	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs4858851	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858853	0.95[EUR][1000 genomes]
rs4858857	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858860	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858863	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4858871	0.88[CEU][hapmap]
rs55823596	0.94[EUR][1000 genomes]
rs56376646	0.90[EUR][1000 genomes]
rs56746603	0.82[AMR][1000 genomes]
rs60110914	0.85[AMR][1000 genomes]
rs61181421	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61620099	0.85[AMR][1000 genomes]
rs62262129	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62263561	0.94[EUR][1000 genomes]
rs62263575	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6442072	0.90[AMR][1000 genomes]
rs6442074	0.90[AMR][1000 genomes]
rs6442079	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442081	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6442082	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442083	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6442085	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6442086	0.97[EUR][1000 genomes]
rs6768699	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6772301	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6773467	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6773732	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6774170	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs6776963	0.95[CEU][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6777632	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6782998	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6785031	0.82[AMR][1000 genomes]
rs6785669	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6786001	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6789835	0.82[AMR][1000 genomes]
rs6792497	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6792737	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6806860	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72906474	0.81[ASN][1000 genomes]
rs72906488	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73085151	0.94[EUR][1000 genomes]
rs7374516	0.84[CEU][hapmap]
rs7426976	0.84[CEU][hapmap]
rs7429162	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7430879	0.84[CEU][hapmap]
rs7430913	0.86[CEU][hapmap]
rs7612219	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7613934	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7618758	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7621236	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7624474	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs7629850	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7631950	0.85[AMR][1000 genomes]
rs7637372	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7637950	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7638103	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7642691	0.82[AMR][1000 genomes]
rs7645846	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7646982	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7649393	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs777015	0.88[CEU][hapmap]
rs796566	0.87[CEU][hapmap];0.84[AFR][1000 genomes]
rs800762	0.81[ASN][1000 genomes]
rs810334	0.88[CEU][hapmap]
rs868255	0.85[AMR][1000 genomes]
rs870622	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs883661	0.85[AMR][1000 genomes]
rs883662	1.00[CEU][hapmap]
rs883663	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs9681917	1.00[CEU][hapmap]
rs9757517	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9850154	0.88[EUR][1000 genomes]
rs9862913	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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
4	nsv965333	chr3:47815622-47845296	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv10270	chr3:47822606-47845578	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6792350	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs6792350	ZNF589	cis	Nerve Tibial	GTEx
rs6792350	MRPS18AP1	cis	lung	GTEx
rs6792350	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6792350	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs6792350	MAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47831200-47842800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:47833600-47843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:47837600-47839200	Enhancers	K562	blood
4	chr3:47837800-47840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:47838400-47839000	Flanking Active TSS	HepG2	liver
6	chr3:47838400-47839600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:47838600-47839200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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