Variant report

Variant	rs8013494
Chromosome Location	chr14:39349150-39349151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11625132	0.81[EUR][1000 genomes]
rs1547051	0.89[EUR][1000 genomes]
rs1547052	0.89[EUR][1000 genomes]
rs1570167	0.89[EUR][1000 genomes]
rs1957050	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1957052	0.80[ASN][1000 genomes]
rs1957054	0.87[EUR][1000 genomes]
rs1957056	0.87[EUR][1000 genomes]
rs2415518	0.86[EUR][1000 genomes]
rs2415519	0.86[EUR][1000 genomes]
rs6571877	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs762007	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs911407	0.88[ASN][1000 genomes]
rs9783655	0.84[ASN][1000 genomes]
rs988419	0.80[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39339000-39350200	Weak transcription	Brain Anterior Caudate	brain
2	chr14:39344800-39349600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:39345800-39349600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:39347000-39351600	Enhancers	Brain Hippocampus Middle	brain
5	chr14:39347600-39349800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:39348200-39349600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:39348400-39349600	Weak transcription	Spleen	Spleen
8	chr14:39348400-39350000	Weak transcription	Placenta	Placenta
9	chr14:39348600-39349600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:39348600-39349600	Weak transcription	Left Ventricle	heart
11	chr14:39348600-39349800	Weak transcription	HUVEC	blood vessel
12	chr14:39348800-39349600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:39348800-39349800	Weak transcription	Adipose Nuclei	Adipose

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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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