Variant report

Variant	rs4032080
Chromosome Location	chr12:30474937-30474938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10082751	0.80[JPT][hapmap]
rs10083054	0.84[JPT][hapmap]
rs10506066	0.80[JPT][hapmap]
rs10771699	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10771700	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11050819	0.82[CHD][hapmap];0.80[JPT][hapmap]
rs1262338	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1320922	0.80[JPT][hapmap]
rs1320923	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1320925	0.80[JPT][hapmap]
rs1429636	0.80[ASN][1000 genomes]
rs1612581	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1612791	0.80[ASN][1000 genomes]
rs1612949	0.80[ASN][1000 genomes]
rs1613702	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652138	0.80[JPT][hapmap]
rs1652185	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652186	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1652188	0.80[ASN][1000 genomes]
rs1652189	0.96[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652191	0.80[ASN][1000 genomes]
rs1652193	0.80[ASN][1000 genomes]
rs1652195	0.84[ASN][1000 genomes]
rs1731490	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1731491	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1731492	1.00[JPT][hapmap]
rs1731493	0.80[ASN][1000 genomes]
rs1731500	0.80[ASN][1000 genomes]
rs1731503	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1731515	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17464127	0.80[JPT][hapmap]
rs2564526	0.80[ASN][1000 genomes]
rs2564527	0.80[ASN][1000 genomes]
rs2564593	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2700023	0.80[JPT][hapmap]
rs2700026	0.80[ASN][1000 genomes]
rs2700028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2703363	0.80[ASN][1000 genomes]
rs354134	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs354137	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs354153	0.81[EUR][1000 genomes]
rs4094863	0.81[EUR][1000 genomes]

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	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv33180	chr12:30471617-30478229	Weak transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv558004	chr12:30474815-30480514	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4032080	HCK	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30471400-30476000	Weak transcription	Gastric	stomach

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