Variant report

Variant	rs57816463
Chromosome Location	chr20:24111997-24111998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58712671	1.00[EUR][1000 genomes]
rs58987530	1.00[EUR][1000 genomes]
rs60160675	1.00[EUR][1000 genomes]
rs6036659	1.00[EUR][1000 genomes]
rs60448850	1.00[EUR][1000 genomes]
rs6049410	1.00[EUR][1000 genomes]
rs6114491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7264988	1.00[EUR][1000 genomes]
rs7271486	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73334853	1.00[EUR][1000 genomes]
rs8119437	1.00[EUR][1000 genomes]
rs9967925	1.00[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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57816463	PSMD2	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24110000-24112400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:24110800-24112000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr20:24110800-24113400	Enhancers	Fetal Kidney	kidney
4	chr20:24111000-24112000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr20:24111000-24112200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr20:24111000-24117200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:24111400-24117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:24111400-24120400	Enhancers	Placenta	Placenta
9	chr20:24111600-24115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:24111600-24119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:24111800-24112600	Enhancers	NHEK	skin
12	chr20:24111800-24113000	Enhancers	HUVEC	blood vessel
13	chr20:24111800-24115600	Enhancers	HMEC	breast
14	chr20:24111800-24116400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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