Variant report

Variant	rs57247657
Chromosome Location	chr2:47864346-47864347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17036784	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504691	0.86[EUR][1000 genomes]
rs2881828	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56880609	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60010947	0.83[EUR][1000 genomes]
rs60991393	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72872896	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72872897	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72875007	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72875008	0.81[AMR][1000 genomes];0.81[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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