Variant report

Variant	rs56880609
Chromosome Location	chr2:47867911-47867912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17036784	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504691	0.88[EUR][1000 genomes]
rs2881828	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57247657	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60010947	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs60991393	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72872896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72872897	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72875007	0.83[EUR][1000 genomes]
rs72875008	0.87[AMR][1000 genomes];0.91[EUR][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	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
3	nsv457396	chr2:47866133-47956844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581771	chr2:47866133-47956844	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47864000-47869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47864400-47868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47864400-47869000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:47864600-47868200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:47864600-47868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:47864600-47881200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:47866600-47868400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:47866800-47868200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:47866800-47868200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:47866800-47869000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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