Variant report

Variant	rs12772122
Chromosome Location	chr8:52710268-52710269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10908971	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908975	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11265985	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11265998	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11266021	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11523417	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11524383	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11524826	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11528798	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1603828	0.87[AMR][1000 genomes]
rs1608191	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1608192	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1827082	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2201907	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2204159	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2878325	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35188330	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9702080	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9732495	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9732778	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9794161	0.85[ASN][1000 genomes]
rs9794164	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1023825	chr8:52668824-52716137	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12772122	LOC283027	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52704200-52712600	Weak transcription	Left Ventricle	heart
2	chr8:52705800-52716000	Weak transcription	Right Ventricle	heart
3	chr8:52708600-52721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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