Variant report

Variant	rs6110752
Chromosome Location	chr20:15684087-15684088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs6034258	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6034259	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6034266	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs6034267	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6034268	0.83[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap]
rs6034270	0.83[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs6043438	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6043440	0.90[CHD][hapmap];0.93[JPT][hapmap]
rs6043442	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs6043443	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs6043462	0.83[EUR][1000 genomes]
rs6043464	0.83[CEU][hapmap]
rs6043465	0.83[CEU][hapmap]
rs6043470	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs6043472	0.91[CEU][hapmap];0.89[MEX][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6110751	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6110754	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6514600	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7263789	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap]
rs8122835	0.83[EUR][1000 genomes]
rs8123014	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv3303	chr20:15656109-15700969	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6110752	LOC152217	trans	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15680000-15692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:15682400-15684800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr20:15682600-15684800	Enhancers	HMEC	breast
4	chr20:15683000-15685400	Enhancers	NHEK	skin
5	chr20:15683200-15684800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:15683200-15685400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:15683400-15684600	Enhancers	HSMM	muscle
8	chr20:15683400-15684600	Enhancers	Osteobl	bone
9	chr20:15683600-15684400	Enhancers	NH-A	brain
10	chr20:15683600-15684600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:15683600-15684800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:15683600-15685000	Enhancers	Hela-S3	cervix
13	chr20:15683600-15685400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:15683600-15688200	Enhancers	HUVEC	blood vessel
15	chr20:15683800-15684600	Enhancers	NHDF-Ad	bronchial
16	chr20:15683800-15684600	Enhancers	NHLF	lung

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