Variant report

Variant	rs1952503
Chromosome Location	chr14:25559476-25559477
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10146559	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147239	0.80[JPT][hapmap]
rs12432850	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571465	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17109537	0.83[CEU][hapmap]
rs17257773	0.80[JPT][hapmap]
rs1958381	0.83[CEU][hapmap]
rs1958390	0.96[EUR][1000 genomes]
rs1958391	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2031936	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031938	0.94[EUR][1000 genomes]
rs2031939	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4644786	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61979909	0.90[EUR][1000 genomes]
rs61979910	0.96[EUR][1000 genomes]
rs8006005	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8020810	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs928075	0.95[EUR][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	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1952503	NRL	cis	parietal	SCAN
rs1952503	DHRS1	cis	parietal	SCAN
rs1952503	PRMT5	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25547000-25561600	Weak transcription	Pancreas	Pancrea
2	chr14:25558200-25560400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:25558200-25563600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:25558600-25560000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:25558600-25561800	Enhancers	HSMM	muscle
6	chr14:25558800-25559800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:25558800-25560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:25558800-25560000	Weak transcription	Fetal Intestine Small	intestine
9	chr14:25558800-25560600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:25559000-25560200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:25559400-25560800	Enhancers	Osteobl	bone

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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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