Variant report

Variant	rs2932767
Chromosome Location	chr5:68449239-68449240
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	chr5:68446696..68449610-chr5:68457555..68460307,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs100192	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs10940209	0.85[ASN][1000 genomes]
rs10940210	0.84[ASN][1000 genomes]
rs11748974	0.84[ASN][1000 genomes]
rs13175606	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs151589	0.93[ASN][1000 genomes]
rs163442	0.80[ASN][1000 genomes]
rs163443	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs163444	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs164386	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs164388	0.80[ASN][1000 genomes]
rs164390	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs164715	0.93[ASN][1000 genomes]
rs1650779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1683831	0.84[ASN][1000 genomes]
rs171212	0.85[ASN][1000 genomes]
rs184747	0.93[ASN][1000 genomes]
rs2130757	0.85[ASN][1000 genomes]
rs2171148	0.85[ASN][1000 genomes]
rs2172056	0.85[ASN][1000 genomes]
rs2291519	0.85[ASN][1000 genomes]
rs2291520	0.85[ASN][1000 genomes]
rs2450230	0.88[ASN][1000 genomes]
rs2450246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28506805	0.84[ASN][1000 genomes]
rs28602964	0.83[ASN][1000 genomes]
rs2930945	0.89[ASN][1000 genomes]
rs2930949	0.85[ASN][1000 genomes]
rs2930951	0.85[ASN][1000 genomes]
rs2932772	0.90[ASN][1000 genomes]
rs2932773	0.90[ASN][1000 genomes]
rs2932775	0.90[ASN][1000 genomes]
rs2932776	0.90[ASN][1000 genomes]
rs2932782	0.85[ASN][1000 genomes]
rs2972361	0.85[ASN][1000 genomes]
rs2972366	0.85[ASN][1000 genomes]
rs2972381	0.85[ASN][1000 genomes]
rs2972386	0.85[ASN][1000 genomes]
rs2972387	0.85[ASN][1000 genomes]
rs2972388	0.85[ASN][1000 genomes]
rs34935424	0.80[ASN][1000 genomes]
rs350099	0.80[ASN][1000 genomes]
rs350107	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs350109	0.91[ASN][1000 genomes]
rs350115	0.93[ASN][1000 genomes]
rs350116	0.87[ASN][1000 genomes]
rs350122	0.85[ASN][1000 genomes]
rs350123	0.90[ASN][1000 genomes]
rs351424	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs352626	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs353656	0.92[ASN][1000 genomes]
rs376768	0.80[ASN][1000 genomes]
rs379106	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs379434	0.80[ASN][1000 genomes]
rs386640	0.93[ASN][1000 genomes]
rs389686	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs389938	0.80[ASN][1000 genomes]
rs3934528	0.84[ASN][1000 genomes]
rs395122	0.80[ASN][1000 genomes]
rs4077460	0.84[ASN][1000 genomes]
rs419902	0.93[ASN][1000 genomes]
rs4266362	0.85[ASN][1000 genomes]
rs4362903	0.84[ASN][1000 genomes]
rs437665	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4421064	0.84[ASN][1000 genomes]
rs444305	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4541612	0.82[ASN][1000 genomes]
rs4629549	0.87[ASN][1000 genomes]
rs476125	0.84[ASN][1000 genomes]
rs488498	0.84[ASN][1000 genomes]
rs603029	0.83[ASN][1000 genomes]
rs62373164	0.84[ASN][1000 genomes]
rs6450029	0.80[ASN][1000 genomes]
rs648489	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs651076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs676879	0.86[ASN][1000 genomes]
rs6866993	0.87[ASN][1000 genomes]
rs6873869	0.80[ASN][1000 genomes]
rs6876783	0.84[ASN][1000 genomes]
rs693725	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7733556	0.87[ASN][1000 genomes]
rs875459	0.90[CHB][hapmap];0.89[JPT][hapmap];0.80[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv527990	chr5:68448694-68455166	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2932767	MRPS36	cis	lymphoblastoid	seeQTL
rs2932767	CCDC125	cis	lung	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68443600-68462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:68445400-68452200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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