Variant report

Variant	rs2242669
Chromosome Location	chr19:51413790-51413791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000142513	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000142544	Chromatin interaction
ENSG00000268375	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2979452	0.93[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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
2	chr19:51412200-51414000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:51413400-51413800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr19:51413400-51414200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51413600-51413800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:51413600-51413800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:51413600-51414000	Bivalent Enhancer	iPS DF 19.11 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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