Variant report

Variant	rs13406470
Chromosome Location	chr2:134291610-134291611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10172908	1.00[EUR][1000 genomes]
rs10176630	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10179509	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10180776	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10182352	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10204302	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11904353	1.00[EUR][1000 genomes]
rs13383175	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13383603	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13396221	1.00[EUR][1000 genomes]
rs13402934	1.00[EUR][1000 genomes]
rs13406195	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13410388	1.00[EUR][1000 genomes]
rs13419194	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs13432659	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16825509	0.80[YRI][hapmap]
rs1897430	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs1897431	1.00[EUR][1000 genomes]
rs28420171	1.00[EUR][1000 genomes]
rs28634361	1.00[EUR][1000 genomes]
rs6718180	1.00[EUR][1000 genomes]
rs6727895	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134282600-134299200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134286200-134311600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:134290800-134291800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:134291000-134295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:134291200-134311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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