Variant report

Variant	rs5744314
Chromosome Location	chr1:86937558-86937559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10493793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805577	1.00[EUR][1000 genomes]
rs17129186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522658	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4647844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4647848	1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55719851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321760	1.00[EUR][1000 genomes]
rs56398778	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744302	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744304	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744306	0.82[AFR][1000 genomes]
rs5744320	1.00[EUR][1000 genomes]
rs5744324	1.00[EUR][1000 genomes]
rs5744335	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5744314	PABPC1L2B	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86933000-86937800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:86933000-86938000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:86933000-86942800	Weak transcription	K562	blood
4	chr1:86934200-86938000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:86934600-86938200	Active TSS	Fetal Intestine Large	intestine
6	chr1:86934600-86938800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:86935400-86942800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:86936000-86938000	Enhancers	NHDF-Ad	bronchial
9	chr1:86936200-86939400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:86936600-86938200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:86936800-86937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:86936800-86938200	Active TSS	Fetal Intestine Small	intestine
13	chr1:86936800-86938200	Enhancers	Osteobl	bone
14	chr1:86937000-86938800	Enhancers	GM12878-XiMat	blood
15	chr1:86937400-86937600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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