Variant report

Variant	rs12592055
Chromosome Location	chr15:45514477-45514478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45496656..45498769-chr15:45514443..45516075,2	K562	blood:
2	chr15:45514291..45516823-chr15:45570739..45573209,2	MCF-7	breast:
3	chr15:45478493..45480559-chr15:45513673..45516315,2	MCF-7	breast:
4	chr15:45512789..45515700-chr15:45518992..45521212,2	MCF-7	breast:
5	chr15:45489158..45491324-chr15:45514071..45516738,2	K562	blood:

Variant related genes	Relation type
ENSG00000259520	Chromatin interaction
ENSG00000138606	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10450969	0.95[EUR][1000 genomes]
rs10450970	0.97[EUR][1000 genomes]
rs10467979	0.99[EUR][1000 genomes]
rs10775129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851421	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851422	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070444	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070451	0.98[EUR][1000 genomes]
rs11634794	0.97[EUR][1000 genomes]
rs11636018	0.98[EUR][1000 genomes]
rs11636367	0.82[EUR][1000 genomes]
rs11636395	0.81[EUR][1000 genomes]
rs11636410	0.97[EUR][1000 genomes]
rs11636440	0.97[EUR][1000 genomes]
rs11639403	0.98[EUR][1000 genomes]
rs11854234	0.95[EUR][1000 genomes]
rs11854294	0.98[EUR][1000 genomes]
rs11854345	0.96[EUR][1000 genomes]
rs11854347	0.97[EUR][1000 genomes]
rs11854377	0.98[EUR][1000 genomes]
rs11854689	0.99[EUR][1000 genomes]
rs11854690	0.99[EUR][1000 genomes]
rs11855435	0.94[EUR][1000 genomes]
rs11855466	0.96[EUR][1000 genomes]
rs11857919	0.98[EUR][1000 genomes]
rs11858988	0.91[EUR][1000 genomes]
rs12323957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12437603	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440238	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12440793	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12593605	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902212	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12903149	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904079	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12904265	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904591	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12904815	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12905053	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12905246	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12906537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12906734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12909987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910214	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12910270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910357	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12910591	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12911551	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12913123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915027	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12915804	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12915965	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917187	0.98[EUR][1000 genomes]
rs13329225	0.98[EUR][1000 genomes]
rs13329228	0.97[EUR][1000 genomes]
rs1631533	0.99[EUR][1000 genomes]
rs1648285	0.99[EUR][1000 genomes]
rs1648286	0.99[EUR][1000 genomes]
rs1648287	0.98[EUR][1000 genomes]
rs1648289	0.98[EUR][1000 genomes]
rs1648295	0.98[EUR][1000 genomes]
rs1648302	0.95[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs16941017	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1706763	0.95[EUR][1000 genomes]
rs1706764	0.99[EUR][1000 genomes]
rs1706831	0.82[EUR][1000 genomes]
rs1706832	0.99[EUR][1000 genomes]
rs1706834	0.98[EUR][1000 genomes]
rs1706835	0.99[EUR][1000 genomes]
rs1706837	0.99[EUR][1000 genomes]
rs2413775	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2413776	0.96[EUR][1000 genomes]
rs2413778	0.98[EUR][1000 genomes]
rs2413780	0.98[EUR][1000 genomes]
rs2413782	0.98[EUR][1000 genomes]
rs2413786	0.99[EUR][1000 genomes]
rs2433227	0.99[EUR][1000 genomes]
rs2433228	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2433229	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs2458224	0.99[EUR][1000 genomes]
rs2554453	0.94[EUR][1000 genomes]
rs2554454	0.99[EUR][1000 genomes]
rs2554455	0.99[EUR][1000 genomes]
rs2554456	0.99[EUR][1000 genomes]
rs2554457	0.99[EUR][1000 genomes]
rs2668737	0.99[EUR][1000 genomes]
rs2668751	0.99[EUR][1000 genomes]
rs28498330	0.87[EUR][1000 genomes]
rs28524974	0.96[EUR][1000 genomes]
rs28526629	0.97[EUR][1000 genomes]
rs28628668	0.95[EUR][1000 genomes]
rs28680861	0.88[EUR][1000 genomes]
rs28701495	0.87[EUR][1000 genomes]
rs28733848	0.99[EUR][1000 genomes]
rs28756676	0.98[EUR][1000 genomes]
rs28789819	0.98[EUR][1000 genomes]
rs28815867	0.98[EUR][1000 genomes]
rs28847337	0.90[EUR][1000 genomes]
rs28851791	0.98[EUR][1000 genomes]
rs28859291	0.98[EUR][1000 genomes]
rs28877685	0.98[EUR][1000 genomes]
rs28889270	0.98[EUR][1000 genomes]
rs28897155	0.98[EUR][1000 genomes]
rs28897234	0.94[EUR][1000 genomes]
rs2899378	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899379	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34469085	0.82[EUR][1000 genomes]
rs3759892	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759893	0.96[EUR][1000 genomes]
rs3759895	1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs3959644	0.81[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.82[MKK][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3985919	0.99[EUR][1000 genomes]
rs4238376	0.98[EUR][1000 genomes]
rs4238377	0.95[EUR][1000 genomes]
rs4270107	0.95[EUR][1000 genomes]
rs4439707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4442750	0.95[EUR][1000 genomes]
rs4444275	0.95[EUR][1000 genomes]
rs4514617	0.96[EUR][1000 genomes]
rs4544188	0.97[EUR][1000 genomes]
rs4774542	0.99[EUR][1000 genomes]
rs4774550	1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs4775819	0.99[EUR][1000 genomes]
rs4775822	0.98[EUR][1000 genomes]
rs4775823	0.98[EUR][1000 genomes]
rs4775826	0.98[EUR][1000 genomes]
rs4775831	0.97[EUR][1000 genomes]
rs4775832	0.97[EUR][1000 genomes]
rs4775834	0.98[EUR][1000 genomes]
rs4775835	0.98[EUR][1000 genomes]
rs4775836	0.98[EUR][1000 genomes]
rs4775837	0.98[EUR][1000 genomes]
rs4775844	0.98[EUR][1000 genomes]
rs55771002	0.98[EUR][1000 genomes]
rs55920042	0.98[EUR][1000 genomes]
rs62026661	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62026665	0.84[AMR][1000 genomes]
rs62026666	0.82[ASN][1000 genomes]
rs7167326	0.94[EUR][1000 genomes]
rs7167731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169015	0.97[EUR][1000 genomes]
rs7171401	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7174913	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753414	0.82[CHD][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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv977712	chr15:45501081-45515127	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12592055	DUOXA1	cis	parietal	SCAN
rs12592055	TTBK2	cis	parietal	SCAN
rs12592055	SHF	cis	cerebellum	SCAN
rs12592055	FSIP1	cis	parietal	SCAN
rs12592055	SHF	cis	parietal	SCAN
rs12592055	ADAL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45510400-45516800	Weak transcription	Pancreas	Pancrea
2	chr15:45514200-45515000	Enhancers	Fetal Intestine Large	intestine
3	chr15:45514200-45515600	Weak transcription	Stomach Mucosa	stomach
4	chr15:45514400-45514600	Enhancers	Gastric	stomach

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