Variant report

Variant	rs17312456
Chromosome Location	chr5:93043907-93043908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10036024	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10036829	0.88[ASN][1000 genomes]
rs10036891	0.93[AMR][1000 genomes]
rs10038424	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10038828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10038831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10041792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10045836	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10050364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10051878	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052662	0.85[ASN][1000 genomes]
rs10053405	0.88[ASN][1000 genomes]
rs10054790	0.85[ASN][1000 genomes]
rs10054903	0.88[ASN][1000 genomes]
rs10055340	0.88[ASN][1000 genomes]
rs10055741	0.83[ASN][1000 genomes]
rs10057118	0.88[ASN][1000 genomes]
rs10057130	0.88[ASN][1000 genomes]
rs10057664	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10058331	0.85[ASN][1000 genomes]
rs10060331	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10061377	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10064158	0.97[ASN][1000 genomes]
rs10064368	0.80[ASN][1000 genomes]
rs10066431	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10067541	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10067754	0.97[ASN][1000 genomes]
rs10070350	0.91[ASN][1000 genomes]
rs10071040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10071805	0.91[ASN][1000 genomes]
rs10075217	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10076052	0.88[ASN][1000 genomes]
rs10076965	0.97[ASN][1000 genomes]
rs10078941	0.85[ASN][1000 genomes]
rs10079708	0.85[ASN][1000 genomes]
rs10214278	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1026279	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1031424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1038686	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1046217	0.86[JPT][hapmap]
rs10476520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10476522	0.88[ASN][1000 genomes]
rs10476588	0.85[ASN][1000 genomes]
rs10476590	0.85[ASN][1000 genomes]
rs10514376	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs11135397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12054831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12153021	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12188163	0.85[ASN][1000 genomes]
rs12332731	0.97[ASN][1000 genomes]
rs12653528	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12716453	0.85[ASN][1000 genomes]
rs12716454	0.85[ASN][1000 genomes]
rs13153987	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154000	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13156202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13161885	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13164315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13165400	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169675	0.82[ASN][1000 genomes]
rs13171131	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[ASN][1000 genomes]
rs13173952	0.85[ASN][1000 genomes]
rs13177800	0.88[ASN][1000 genomes]
rs13178857	0.94[ASN][1000 genomes]
rs13181456	0.91[ASN][1000 genomes]
rs13182631	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13357713	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13361613	0.85[ASN][1000 genomes]
rs1349711	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1453003	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1470150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs167570	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083278	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17083297	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17083377	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17314074	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17314762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs17314797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs17314825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[ASN][1000 genomes]
rs17372057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17372615	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17372649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17372725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17374166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs1844343	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1901736	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1965712	0.82[ASN][1000 genomes]
rs1965713	0.82[ASN][1000 genomes]
rs1982439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2045019	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2045020	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2045021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2084916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28412976	0.85[ASN][1000 genomes]
rs28418572	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28526002	0.97[ASN][1000 genomes]
rs28534784	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594545	0.97[ASN][1000 genomes]
rs28610997	0.85[ASN][1000 genomes]
rs2924374	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34592268	0.85[ASN][1000 genomes]
rs34621188	0.88[ASN][1000 genomes]
rs34891708	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34967135	0.88[ASN][1000 genomes]
rs35107028	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35372313	0.97[ASN][1000 genomes]
rs35426871	0.82[ASN][1000 genomes]
rs35496867	0.88[ASN][1000 genomes]
rs35747258	0.88[ASN][1000 genomes]
rs35791029	0.97[ASN][1000 genomes]
rs35878747	0.97[ASN][1000 genomes]
rs36042718	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3776601	0.86[JPT][hapmap]
rs55724660	0.88[ASN][1000 genomes]
rs55947981	0.88[ASN][1000 genomes]
rs56108532	0.88[ASN][1000 genomes]
rs6556829	0.86[JPT][hapmap]
rs6556834	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6556838	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6556839	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs66564678	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67328989	0.85[ASN][1000 genomes]
rs67914792	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68122392	0.97[ASN][1000 genomes]
rs6859757	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6868067	0.91[ASN][1000 genomes]
rs6874766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs6877030	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6879620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6881815	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6884138	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6885725	0.81[ASN][1000 genomes]
rs6886025	0.88[ASN][1000 genomes]
rs6890998	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6892055	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6898507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6898842	0.88[ASN][1000 genomes]
rs72786647	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786662	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786702	0.85[ASN][1000 genomes]
rs7701011	0.88[ASN][1000 genomes]
rs7701114	0.97[ASN][1000 genomes]
rs7701314	0.85[ASN][1000 genomes]
rs7701974	0.88[ASN][1000 genomes]
rs7702348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7702649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7712388	0.86[JPT][hapmap]
rs7713956	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7715562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[ASN][1000 genomes]
rs7717718	0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7721168	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs7729807	0.91[ASN][1000 genomes]
rs7734897	0.88[ASN][1000 genomes]
rs7736620	0.88[ASN][1000 genomes]
rs7736624	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs7736892	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs896729	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9314086	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9314092	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17312456	TMEM163	trans	lymphoblastoid	seeQTL
rs17312456	MAGOHB	trans	cerebellum	SCAN
rs17312456	ANKRD32	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93003200-93044400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:93035600-93044200	Weak transcription	Psoas Muscle	Psoas
3	chr5:93038400-93076200	Weak transcription	Ovary	ovary
4	chr5:93038800-93050400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:93040000-93048600	Weak transcription	Primary T cells from cord blood	blood
6	chr5:93040600-93088600	Weak transcription	Aorta	Aorta
7	chr5:93041000-93051400	Weak transcription	Fetal Heart	heart
8	chr5:93043000-93076400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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