Variant report

Variant	rs2144490
Chromosome Location	chr14:24818907-24818908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000139899	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129213	0.82[YRI][hapmap]
rs10130418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124644	0.83[MKK][hapmap]
rs12590407	0.92[YRI][hapmap]
rs13306252	1.00[CHB][hapmap]
rs17101962	1.00[CHB][hapmap]
rs17102926	1.00[CEU][hapmap]
rs17102928	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs1950500	0.92[YRI][hapmap]
rs1955915	0.81[YRI][hapmap]
rs2144489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2229464	1.00[CHB][hapmap]
rs2243891	0.80[ASW][hapmap];0.82[YRI][hapmap]
rs2332327	1.00[YRI][hapmap]
rs2516564	1.00[CHB][hapmap]
rs2855009	1.00[CHB][hapmap]
rs4981500	1.00[CHB][hapmap]
rs4982902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57164636	0.85[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2144490	IL13RA1	trans	lymphoblastoid	seeQTL
rs2144490	RAB31	trans	lymphoblastoid	seeQTL
rs2144490	DHRS1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24809600-24821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:24816600-24820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24816600-24820800	Weak transcription	Lung	lung
4	chr14:24816600-24823000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:24816800-24820600	Weak transcription	K562	blood
6	chr14:24816800-24820800	Weak transcription	Stomach Mucosa	stomach
7	chr14:24817200-24821000	Weak transcription	Fetal Intestine Small	intestine
8	chr14:24818600-24819000	Enhancers	Osteobl	bone
9	chr14:24818600-24819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:24818600-24824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:24818800-24819800	Enhancers	Foreskin Melanocyte Primary Cells skin01	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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