Variant report

Variant	rs6135498
Chromosome Location	chr20:15748541-15748542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10460644	0.81[ASN][1000 genomes]
rs11699445	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16996551	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs2041422	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs2103709	0.87[CEU][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2876413	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs4813196	0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6034289	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6043538	0.87[CEU][hapmap]
rs6105464	0.85[CEU][hapmap]
rs6131709	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs6131710	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs6131711	0.87[CEU][hapmap]
rs6131712	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs6131726	0.87[CEU][hapmap]
rs6135496	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6135503	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6135517	0.87[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs6135525	0.87[CEU][hapmap]
rs6135526	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs6135547	0.85[CHB][hapmap]
rs6135550	0.87[CEU][hapmap]
rs6135551	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs6514612	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs763660	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs8118724	0.87[CEU][hapmap];0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv912791	chr20:15702037-15759361	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv912792	chr20:15724399-15749292	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv458934	chr20:15738086-15772582	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv585641	chr20:15738086-15772582	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv585642	chr20:15738086-15772876	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6135498	ZNF133	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15744000-15748800	Weak transcription	Aorta	Aorta
2	chr20:15747600-15748600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:15748000-15749000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:15748000-15749000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:15748200-15749000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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