Variant report

Variant	rs756853
Chromosome Location	chr7:18890000-18890001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12699994	0.80[MEX][hapmap]
rs13245206	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs2073963	0.80[CEU][hapmap];0.89[LWK][hapmap]
rs3852256	0.80[LWK][hapmap]
rs6461389	0.83[JPT][hapmap]
rs6461394	0.80[MEX][hapmap]
rs6951745	0.80[MEX][hapmap]
rs756854	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7782319	0.82[CHB][hapmap]
rs7811991	0.83[JPT][hapmap]
rs957958	0.81[AFR][1000 genomes]
rs957960	0.84[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs756853	CTSH	trans	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18888200-18890400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:18888200-18895000	Weak transcription	Aorta	Aorta
3	chr7:18888800-18890000	Enhancers	NHDF-Ad	bronchial
4	chr7:18888800-18890000	Enhancers	Osteobl	bone
5	chr7:18889400-18890200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:18889600-18895200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:18890000-18894600	Weak transcription	NHDF-Ad	bronchial
8	chr7:18890000-18895000	Weak transcription	Osteobl	bone

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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