Variant report

Variant	rs12508086
Chromosome Location	chr4:103327149-103327150
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	chr4:103318667..103321583-chr4:103325673..103327605,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10516492	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10516493	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097775	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097776	0.86[ASN][1000 genomes]
rs11097777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117520	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1117522	0.86[ASN][1000 genomes]
rs1159788	0.86[ASN][1000 genomes]
rs11728286	0.83[ASN][1000 genomes]
rs11730379	0.83[ASN][1000 genomes]
rs11730944	0.88[ASN][1000 genomes]
rs11730958	0.88[ASN][1000 genomes]
rs11931217	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs11935847	0.87[ASN][1000 genomes]
rs12508121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510124	0.89[JPT][hapmap]
rs13107285	0.83[ASN][1000 genomes]
rs13125848	0.87[ASN][1000 genomes]
rs1381894	0.83[ASN][1000 genomes]
rs1381895	0.83[ASN][1000 genomes]
rs1381899	0.86[ASN][1000 genomes]
rs1462945	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462948	0.86[ASN][1000 genomes]
rs1462949	0.86[ASN][1000 genomes]
rs1462950	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1462951	0.86[ASN][1000 genomes]
rs1462952	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1599684	0.83[ASN][1000 genomes]
rs1599685	0.86[ASN][1000 genomes]
rs1599686	0.86[ASN][1000 genomes]
rs17032552	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1870952	0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2086004	0.86[ASN][1000 genomes]
rs2126625	0.83[ASN][1000 genomes]
rs34197129	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs34663993	0.86[EUR][1000 genomes]
rs34927061	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35651507	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146611	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4356914	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4594728	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699019	0.86[ASN][1000 genomes]
rs4699020	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699021	0.86[ASN][1000 genomes]
rs4699024	0.88[ASN][1000 genomes]
rs4699026	0.89[JPT][hapmap]
rs4699027	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55801262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56202729	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56202913	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56344531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328212	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328503	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62329487	0.89[EUR][1000 genomes]
rs6814302	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6835467	0.87[ASN][1000 genomes]
rs6843751	0.86[ASN][1000 genomes]
rs6856314	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7657947	0.87[ASN][1000 genomes]
rs7661593	0.86[ASN][1000 genomes]
rs7683109	0.88[ASN][1000 genomes]
rs7695249	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs962399	0.85[ASN][1000 genomes]
rs964504	0.82[GIH][hapmap]
rs984055	0.86[ASN][1000 genomes]
rs9996947	0.81[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv435787	chr4:103325955-103332407	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12508086	ADH6	cis	parietal	SCAN
rs12508086	SLC39A8	cis	parietal	SCAN
rs12508086	SLC39A8	cis	cerebellum	SCAN
rs12508086	DNAJB14	cis	cerebellum	SCAN
rs12508086	SLC39A8	cis	multi-tissue	Pritchard
rs12508086	ADH7	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103317200-103327400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:103323400-103328400	Weak transcription	Psoas Muscle	Psoas
3	chr4:103325000-103341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:103325200-103327400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:103325600-103328600	Enhancers	Hela-S3	cervix

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