Variant report

Variant	rs995266
Chromosome Location	chr14:78916912-78916913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12892860	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs12894903	0.87[ASN][1000 genomes]
rs17107614	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17107634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107653	0.82[CHB][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs17107659	0.95[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17107714	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107723	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17107725	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17107729	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17107749	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2366155	0.81[CHB][hapmap]
rs4899713	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153946	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7155022	0.81[CHB][hapmap]
rs7157669	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs724373	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs73316490	0.88[ASN][1000 genomes]
rs8007529	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs8012913	0.91[CHB][hapmap]
rs8017143	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.84[ASN][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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78907200-78928200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:78915000-78918800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:78915200-78919600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:78915200-78921000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:78915400-78917200	Weak transcription	Fetal Brain Male	brain
6	chr14:78915400-78918800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:78915600-78917000	Weak transcription	GM12878-XiMat	blood
8	chr14:78916200-78918600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:78916600-78917200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr14:78916600-78918000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:78916800-78917400	Enhancers	Lung	lung
12	chr14:78916800-78918200	Enhancers	Brain Inferior Temporal Lobe	brain

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