Variant report

Variant	rs13245206
Chromosome Location	chr7:18891259-18891260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10230371	0.96[MEX][hapmap];0.81[TSI][hapmap]
rs10237149	0.83[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs10237280	0.81[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes]
rs10237366	0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs10270210	0.81[AMR][1000 genomes]
rs10486314	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs12530943	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12536081	0.86[AMR][1000 genomes]
rs12536836	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs12699994	0.96[MEX][hapmap]
rs12699998	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12700002	0.83[ASN][1000 genomes]
rs12700003	0.95[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13238389	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs13242758	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17349860	0.82[GIH][hapmap]
rs2073963	0.80[GIH][hapmap];0.84[MEX][hapmap]
rs2249817	0.96[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs2286213	0.82[AMR][1000 genomes]
rs34854568	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59987684	0.85[ASN][1000 genomes]
rs60976379	0.82[AMR][1000 genomes]
rs6461386	0.85[CHB][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.87[MKK][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs6461387	0.92[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6461389	0.95[CHB][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6461390	0.95[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6461391	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6461392	0.87[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6461393	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6461394	0.95[CHB][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67248060	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6951144	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6951522	0.84[GIH][hapmap]
rs6951745	0.87[CEU][hapmap];0.91[CHB][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6973029	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs756853	0.87[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.86[ASN][1000 genomes]
rs756854	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7782319	0.83[CHB][hapmap]
rs7794241	0.83[AMR][1000 genomes]
rs7801037	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7811991	0.91[JPT][hapmap]
rs957960	0.82[CHB][hapmap];0.81[JPT][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
rs13245206	CTSH	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18888200-18895000	Weak transcription	Aorta	Aorta
2	chr7:18889600-18895200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:18890000-18894600	Weak transcription	NHDF-Ad	bronchial
4	chr7:18890000-18895000	Weak transcription	Osteobl	bone
5	chr7:18890200-18895600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:18890800-18894600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:18891200-18891800	Enhancers	HUES48 Cell Line	embryonic stem cell

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