Variant report

Variant	rs2594732
Chromosome Location	chr3:118978405-118978406
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2717260	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397530	0.85[AMR][1000 genomes]
rs9837492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118975000-118979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:118976000-118978800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:118976000-118979400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:118976200-118979200	Enhancers	Placenta	Placenta
5	chr3:118976400-118979800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:118976400-118979800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:118976600-118978600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:118977200-118978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:118977200-118979600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:118977400-118979800	Weak transcription	Fetal Thymus	thymus
11	chr3:118977600-118979800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:118977800-118979600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:118977800-118979600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:118978200-118979800	Weak transcription	ES-I3 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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