Variant report

Variant	rs909051
Chromosome Location	chr2:53665791-53665792
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11125496	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465172	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12477071	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12477543	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13411752	0.89[ASN][1000 genomes]
rs1389572	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1521932	0.85[CEU][hapmap]
rs1521936	0.98[ASN][1000 genomes]
rs1521947	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1521949	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1521950	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4672418	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4672419	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4672420	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6748128	0.85[CEU][hapmap];0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53661600-53666200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:53662600-53667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:53662600-53669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:53663000-53669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:53663600-53668800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:53663600-53669000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:53663800-53665800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:53664200-53669000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:53664400-53666000	Enhancers	Hela-S3	cervix
10	chr2:53664600-53666200	Enhancers	Stomach Mucosa	stomach
11	chr2:53664800-53666600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:53664800-53669400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:53665200-53665800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:53665200-53666400	Enhancers	Fetal Heart	heart
15	chr2:53665400-53666200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:53665600-53667400	Weak transcription	Pancreas	Pancrea
17	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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