Variant report

Variant	rs12885665
Chromosome Location	chr14:47801437-47801438
allele	A/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:22)

rs_ID	r²[population]
rs12436721	0.84[AFR][1000 genomes]
rs12883877	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884207	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890770	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893855	1.00[EUR][1000 genomes]
rs1571106	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118371	0.82[YRI][hapmap]
rs17118372	0.87[YRI][hapmap]
rs2416048	0.91[AFR][1000 genomes]
rs34479835	1.00[ASN][1000 genomes]
rs34744963	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762381	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34872348	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35487985	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35529348	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36045809	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36083396	1.00[ASN][1000 genomes]
rs61993123	1.00[ASN][1000 genomes]
rs61993125	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66881974	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683871	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12885665	C14orf182	cis	cerebellum	SCAN

Chromatin state (count:11 , 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
7	chr14:47801400-47801800	Enhancers	Adipose Nuclei	Adipose
8	chr14:47801400-47801800	Enhancers	Brain Angular Gyrus	brain
9	chr14:47801400-47801800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:47801400-47802200	Enhancers	Brain Anterior Caudate	brain
11	chr14:47801400-47802400	Enhancers	Brain Hippocampus Middle	brain

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