Variant report

Variant	rs1815638
Chromosome Location	chr14:47801257-47801258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12433443	0.97[ASN][1000 genomes]
rs12436524	0.83[ASN][1000 genomes]
rs12436613	0.80[ASN][1000 genomes]
rs12436721	0.88[ASN][1000 genomes]
rs17118353	0.91[ASN][1000 genomes]
rs17118405	0.85[ASN][1000 genomes]
rs17118419	0.80[ASN][1000 genomes]
rs17118453	0.83[ASN][1000 genomes]
rs17674501	0.83[ASN][1000 genomes]
rs17740878	0.94[ASN][1000 genomes]
rs17740979	0.97[ASN][1000 genomes]
rs17742627	0.83[ASN][1000 genomes]
rs1806787	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2277472	0.91[ASN][1000 genomes]
rs2416048	0.88[ASN][1000 genomes]
rs7148112	0.94[ASN][1000 genomes]
rs7154882	0.97[ASN][1000 genomes]
rs7160311	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs72683858	0.94[ASN][1000 genomes]
rs72683876	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv530661	chr14:47754197-47937396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv498118	chr14:47754197-48274409	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 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	chr14:47797400-47804000	Weak transcription	Fetal Brain Male	brain
2	chr14:47800600-47802000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:47800800-47801600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:47801000-47801600	Enhancers	Brain Cingulate Gyrus	brain
5	chr14:47801000-47801600	Enhancers	Fetal Lung	lung
6	chr14:47801200-47802200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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