Variant report

Variant	rs12050312
Chromosome Location	chr14:85710705-85710706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10134214	0.82[AMR][1000 genomes]
rs10220585	0.82[AMR][1000 genomes]
rs12891822	0.81[AFR][1000 genomes]
rs1530325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667505	0.82[CHB][hapmap]
rs1767418	1.00[CHB][hapmap]
rs17796669	0.96[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1867082	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs2029135	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2053514	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2372881	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2888433	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34662815	0.90[EUR][1000 genomes]
rs4904242	0.89[EUR][1000 genomes]
rs7142810	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs7151509	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7160419	0.85[JPT][hapmap]
rs895909	0.96[EUR][1000 genomes];0.82[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	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902168	chr14:85693904-85716792	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv2422273	chr14:85703149-85767292	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85701200-85715200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:85706200-85715600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:85707200-85710800	Enhancers	Fetal Brain Male	brain
4	chr14:85707200-85710800	Enhancers	Fetal Brain Female	brain
5	chr14:85707600-85713800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:85708200-85713200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:85708200-85715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:85708400-85716000	Weak transcription	Ovary	ovary
9	chr14:85709000-85715400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:85709400-85718200	Weak transcription	HSMMtube	muscle
11	chr14:85710400-85712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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