Variant report

Variant	rs6443696
Chromosome Location	chr3:180129992-180129993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1520606	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2338578	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28595523	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4490359	0.88[EUR][1000 genomes]
rs4615077	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59829320	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62291003	0.83[AMR][1000 genomes]
rs6443700	0.87[ASW][hapmap];0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs6771979	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6789277	0.95[AFR][1000 genomes]
rs6791597	0.86[GIH][hapmap];0.83[YRI][hapmap]
rs7611683	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7613520	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7624210	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7625418	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7633440	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7643043	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7645817	1.00[CHD][hapmap];0.86[GIH][hapmap];0.86[YRI][hapmap]
rs7647210	0.86[GIH][hapmap];0.83[YRI][hapmap]
rs9830241	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9842781	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9857056	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9865427	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6443696	TTC14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180126000-180130000	Enhancers	HMEC	breast
2	chr3:180128200-180133800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:180128400-180133400	Weak transcription	NHEK	skin
4	chr3:180128400-180133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:180128600-180131800	Weak transcription	Ovary	ovary
6	chr3:180128800-180133600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:180129200-180131600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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