Variant report

Variant	rs10498544
Chromosome Location	chr14:81015420-81015421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10135604	0.84[JPT][hapmap]
rs10138431	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10140845	0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10148083	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11844906	0.82[CEU][hapmap]
rs11847660	0.91[ASN][1000 genomes]
rs12587285	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs12878113	0.86[CEU][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs12881248	0.85[CEU][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs12886241	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17110851	0.80[EUR][1000 genomes]
rs17110854	0.80[EUR][1000 genomes]
rs2290168	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34019777	0.82[EUR][1000 genomes]
rs34489190	0.83[EUR][1000 genomes]
rs34536975	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34946091	0.82[EUR][1000 genomes]
rs35038680	0.82[EUR][1000 genomes]
rs35817733	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35930082	0.81[EUR][1000 genomes]
rs61981704	0.81[EUR][1000 genomes]
rs61981706	0.80[EUR][1000 genomes]
rs6574594	0.84[TSI][hapmap]
rs67116258	0.82[EUR][1000 genomes]
rs7149459	0.84[TSI][hapmap]
rs7160604	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs8005242	0.85[ASN][1000 genomes]
rs8016151	0.84[JPT][hapmap]
rs8017175	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10498544	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81003400-81015600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81013200-81023800	Weak transcription	Dnd41	blood
3	chr14:81015400-81015800	Active TSS	Brain Anterior Caudate	brain
4	chr14:81015400-81015800	Flanking Active TSS	Ovary	ovary
5	chr14:81015400-81015800	Active TSS	Osteobl	bone
6	chr14:81015400-81016000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:81015400-81016000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:81015400-81016000	Enhancers	Colon Smooth Muscle	Colon
9	chr14:81015400-81016000	Enhancers	HMEC	breast
10	chr14:81015400-81016000	Flanking Active TSS	NHEK	skin
11	chr14:81015400-81016400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81015400-81016400	Enhancers	Cortex derived primary cultured neurospheres	brain

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