Variant report

Variant	rs34662280
Chromosome Location	chr2:47864361-47864362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11679268	0.84[ASN][1000 genomes]
rs11685572	0.82[EUR][1000 genomes]
rs12712995	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12712996	0.87[EUR][1000 genomes]
rs13391328	0.85[EUR][1000 genomes]
rs13413097	0.86[EUR][1000 genomes]
rs13426166	0.86[EUR][1000 genomes]
rs1574380	0.86[EUR][1000 genomes]
rs17570215	0.84[EUR][1000 genomes]
rs17570243	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2348097	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35141167	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72815875	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47862800-47864400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:47862800-47864600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:47863000-47864600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:47863200-47864400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:47863200-47864400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:47863200-47864600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:47863400-47864400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47863400-47864400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:47863400-47864800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:47863600-47864600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:47863800-47864600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47864000-47864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:47864000-47864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:47864000-47864600	Enhancers	Fetal Stomach	stomach
15	chr2:47864000-47869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:47864200-47864400	Enhancers	Aorta	Aorta

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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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