Variant report

Variant	rs17108452
Chromosome Location	chr14:39347089-39347090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483546	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157021	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11157022	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12432214	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433439	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108400	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes]
rs17108424	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17401680	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73281372	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39338400-39348200	Weak transcription	Pancreas	Pancrea
2	chr14:39339000-39347400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:39339000-39350200	Weak transcription	Brain Anterior Caudate	brain
4	chr14:39343600-39348200	Weak transcription	Psoas Muscle	Psoas
5	chr14:39344000-39347600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:39344800-39349600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:39345200-39347200	Weak transcription	Brain Substantia Nigra	brain
8	chr14:39345200-39348000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:39345800-39349600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:39346600-39347400	Enhancers	Brain Angular Gyrus	brain
11	chr14:39346600-39347600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:39346600-39348800	Enhancers	Adipose Nuclei	Adipose
13	chr14:39346800-39347600	Enhancers	Fetal Lung	lung
14	chr14:39347000-39347600	Enhancers	Stomach Mucosa	stomach
15	chr14:39347000-39351600	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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