Variant report

Variant	rs13142096
Chromosome Location	chr4:56432458-56432459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56431432..56433277-chr4:56434733..56436316,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10462032	0.95[ASN][1000 genomes]
rs1047354	0.89[ASN][1000 genomes]
rs10517344	0.96[ASN][1000 genomes]
rs10517346	0.94[ASN][1000 genomes]
rs1056545	0.91[ASN][1000 genomes]
rs1056547	0.91[ASN][1000 genomes]
rs10866425	0.87[ASN][1000 genomes]
rs11133378	0.92[ASN][1000 genomes]
rs11133380	0.92[ASN][1000 genomes]
rs11133384	0.94[ASN][1000 genomes]
rs11133385	0.95[ASN][1000 genomes]
rs11133386	0.94[ASN][1000 genomes]
rs11133387	0.96[ASN][1000 genomes]
rs11133388	0.96[ASN][1000 genomes]
rs11133389	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11133390	0.94[ASN][1000 genomes]
rs11133391	0.94[ASN][1000 genomes]
rs11133392	0.96[ASN][1000 genomes]
rs11133395	0.96[ASN][1000 genomes]
rs11133396	0.94[ASN][1000 genomes]
rs11133397	0.95[ASN][1000 genomes]
rs11133398	0.95[ASN][1000 genomes]
rs11133400	0.87[ASN][1000 genomes]
rs11722049	0.94[ASN][1000 genomes]
rs11724094	0.95[ASN][1000 genomes]
rs11726198	0.96[ASN][1000 genomes]
rs11729220	0.95[ASN][1000 genomes]
rs11932293	1.00[ASN][1000 genomes]
rs11932712	0.92[ASN][1000 genomes]
rs11932880	0.90[ASN][1000 genomes]
rs11934897	1.00[ASN][1000 genomes]
rs11935823	0.84[ASN][1000 genomes]
rs11937487	0.92[ASN][1000 genomes]
rs11939580	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11939652	0.84[ASN][1000 genomes]
rs11942472	0.87[ASN][1000 genomes]
rs11943206	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11945370	0.92[ASN][1000 genomes]
rs12500162	0.94[ASN][1000 genomes]
rs12500456	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12500601	0.93[ASN][1000 genomes]
rs12500852	0.87[ASN][1000 genomes]
rs12501327	0.96[ASN][1000 genomes]
rs12501636	0.94[ASN][1000 genomes]
rs12501746	0.91[ASN][1000 genomes]
rs12503578	0.96[ASN][1000 genomes]
rs12504300	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12504632	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12505266	0.94[ASN][1000 genomes]
rs12506788	0.96[ASN][1000 genomes]
rs12507722	0.95[ASN][1000 genomes]
rs12508367	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12510110	0.92[ASN][1000 genomes]
rs12510275	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12510327	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12510400	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12510681	0.94[ASN][1000 genomes]
rs12510990	0.92[ASN][1000 genomes]
rs12512737	0.94[ASN][1000 genomes]
rs12642716	0.95[ASN][1000 genomes]
rs12644948	0.96[ASN][1000 genomes]
rs12647677	0.92[ASN][1000 genomes]
rs12648271	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649507	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12651640	0.94[ASN][1000 genomes]
rs13106406	0.94[ASN][1000 genomes]
rs13107810	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13107988	0.95[ASN][1000 genomes]
rs13108409	0.96[ASN][1000 genomes]
rs13108499	0.96[ASN][1000 genomes]
rs13111128	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13113518	0.96[ASN][1000 genomes]
rs13114841	0.95[ASN][1000 genomes]
rs13115570	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13115828	1.00[ASN][1000 genomes]
rs13116035	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13116194	0.96[ASN][1000 genomes]
rs13117836	0.96[ASN][1000 genomes]
rs13118237	0.96[ASN][1000 genomes]
rs13118520	0.97[ASN][1000 genomes]
rs13122619	0.95[ASN][1000 genomes]
rs13124436	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13125984	0.94[ASN][1000 genomes]
rs13127906	0.90[ASN][1000 genomes]
rs13128179	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13132084	0.90[ASN][1000 genomes]
rs13132420	0.96[ASN][1000 genomes]
rs13133484	0.93[ASN][1000 genomes]
rs13133579	0.94[ASN][1000 genomes]
rs13136282	1.00[ASN][1000 genomes]
rs13138241	1.00[ASN][1000 genomes]
rs13140173	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13140590	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13141049	0.96[ASN][1000 genomes]
rs13144598	0.99[ASN][1000 genomes]
rs13146987	0.95[ASN][1000 genomes]
rs13152173	0.96[ASN][1000 genomes]
rs1464490	0.94[ASN][1000 genomes]
rs1474271	0.92[ASN][1000 genomes]
rs1522112	0.96[ASN][1000 genomes]
rs1522114	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1554483	0.94[ASN][1000 genomes]
rs1554484	0.94[ASN][1000 genomes]
rs1586555	0.87[ASN][1000 genomes]
rs2035691	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2035692	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2171618	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2272073	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2279458	1.00[ASN][1000 genomes]
rs2412648	0.94[ASN][1000 genomes]
rs34534635	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34648901	0.98[ASN][1000 genomes]
rs34658078	0.81[ASN][1000 genomes]
rs3749474	0.92[ASN][1000 genomes]
rs3762837	0.96[ASN][1000 genomes]
rs3805146	0.92[ASN][1000 genomes]
rs3805148	0.92[ASN][1000 genomes]
rs3805149	0.92[ASN][1000 genomes]
rs3805150	0.92[ASN][1000 genomes]
rs3805151	0.96[ASN][1000 genomes]
rs3805153	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3805155	0.95[ASN][1000 genomes]
rs3828480	0.96[ASN][1000 genomes]
rs3828482	0.95[ASN][1000 genomes]
rs4256282	0.87[ASN][1000 genomes]
rs4340844	0.95[ASN][1000 genomes]
rs4507426	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4864542	0.95[ASN][1000 genomes]
rs4864543	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4864544	0.96[ASN][1000 genomes]
rs4864545	0.96[ASN][1000 genomes]
rs4864546	0.96[ASN][1000 genomes]
rs4864547	0.96[ASN][1000 genomes]
rs4864548	1.00[ASN][1000 genomes]
rs4864549	1.00[ASN][1000 genomes]
rs4864990	0.92[ASN][1000 genomes]
rs4864993	0.94[ASN][1000 genomes]
rs4864994	0.94[ASN][1000 genomes]
rs4864995	0.94[ASN][1000 genomes]
rs4864996	0.94[ASN][1000 genomes]
rs4864997	0.96[ASN][1000 genomes]
rs4864999	0.96[ASN][1000 genomes]
rs4865001	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4865003	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4865004	0.96[ASN][1000 genomes]
rs4865005	0.96[ASN][1000 genomes]
rs4865007	0.96[ASN][1000 genomes]
rs4865011	1.00[ASN][1000 genomes]
rs4865013	1.00[ASN][1000 genomes]
rs55699500	0.98[ASN][1000 genomes]
rs56055342	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56154935	0.95[ASN][1000 genomes]
rs56362210	0.98[ASN][1000 genomes]
rs5863	0.89[ASN][1000 genomes]
rs6822740	0.96[ASN][1000 genomes]
rs6825774	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6828570	0.91[ASN][1000 genomes]
rs6830409	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6838305	0.96[ASN][1000 genomes]
rs6838499	0.84[ASN][1000 genomes]
rs6838882	0.95[ASN][1000 genomes]
rs6843722	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6843997	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6847529	0.96[ASN][1000 genomes]
rs6849433	0.96[ASN][1000 genomes]
rs6849474	0.94[ASN][1000 genomes]
rs6858803	0.94[ASN][1000 genomes]
rs7658446	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7660517	0.89[ASN][1000 genomes]
rs7660980	0.98[ASN][1000 genomes]
rs7662966	1.00[ASN][1000 genomes]
rs7667741	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7668429	0.96[ASN][1000 genomes]
rs7669635	0.96[ASN][1000 genomes]
rs7675109	0.96[ASN][1000 genomes]
rs7677085	0.95[ASN][1000 genomes]
rs7677952	0.89[ASN][1000 genomes]
rs7686058	0.95[ASN][1000 genomes]
rs7686261	0.95[ASN][1000 genomes]
rs7690837	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7691799	0.98[ASN][1000 genomes]
rs7696832	0.96[ASN][1000 genomes]
rs7699867	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9312661	0.96[ASN][1000 genomes]
rs939823	0.95[ASN][1000 genomes]
rs960152	0.96[ASN][1000 genomes]
rs9790523	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13142096	SRD5A3-AS1	cis	Whole Blood	GTEx
rs13142096	SRD5A3	cis	Thyroid	GTEx
rs13142096	SRD5A3	cis	Esophagus Mucosa	GTEx
rs13142096	SRD5A3	cis	Whole Blood	GTEx
rs13142096	TMEM165	cis	Nerve Tibial	GTEx
rs13142096	SRD5A3-AS1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56430400-56433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:56431200-56434800	Weak transcription	K562	blood
3	chr4:56432000-56442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:56432200-56434600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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