Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10230371	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10237149	0.96[MEX][hapmap];0.89[TSI][hapmap]
rs10237280	0.96[MEX][hapmap];0.87[TSI][hapmap]
rs10237366	0.87[TSI][hapmap]
rs10270210	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10486314	0.92[MEX][hapmap];0.85[TSI][hapmap]
rs12536836	0.85[CEU][hapmap]
rs12699994	0.92[MEX][hapmap]
rs12699998	0.80[AMR][1000 genomes]
rs12700001	0.83[AMR][1000 genomes]
rs12700002	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12700003	0.85[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13245206	0.96[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs2073963	0.80[MEX][hapmap]
rs34854568	0.84[AMR][1000 genomes]
rs3852256	0.83[GIH][hapmap]
rs59987684	0.81[AMR][1000 genomes]
rs60976379	0.82[AMR][1000 genomes]
rs6461386	0.80[MEX][hapmap]
rs6461387	0.96[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes]
rs6461389	0.88[MEX][hapmap]
rs6461390	0.81[AMR][1000 genomes]
rs6461391	0.80[AMR][1000 genomes]
rs6461392	0.81[AMR][1000 genomes]
rs6461394	0.92[MEX][hapmap]
rs6951144	0.82[AMR][1000 genomes]
rs6951745	0.92[MEX][hapmap]
rs756854	0.81[CEU][hapmap];0.87[AMR][1000 genomes]
rs7801037	0.84[AMR][1000 genomes];0.84[EUR][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	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2249817	CTSH	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18894600-18896200	Enhancers	NHDF-Ad	bronchial
2	chr7:18894600-18896600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:18895000-18896800	Enhancers	Osteobl	bone
4	chr7:18895400-18902800	Weak transcription	Aorta	Aorta
5	chr7:18895600-18896200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:18895600-18897200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:18895800-18896400	Enhancers	Pancreatic Islets	Pancreatic Islet

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