Variant report

Variant	rs62134742
Chromosome Location	chr2:54918986-54918987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62134712	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62134744	1.00[AMR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62134742	PPP6C	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
3	chr2:54916200-54919000	Weak transcription	Stomach Mucosa	stomach
4	chr2:54918600-54919400	Enhancers	Fetal Intestine Small	intestine
5	chr2:54918600-54919600	Enhancers	Fetal Intestine Large	intestine
6	chr2:54918600-54919600	Enhancers	HepG2	liver
7	chr2:54918600-54919600	Enhancers	K562	blood
8	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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