Variant report

Variant	rs1950500
Chromosome Location	chr14:24830850-24830851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000100968	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12590407	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2144490	0.92[YRI][hapmap]
rs2332327	0.92[YRI][hapmap]

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

Variant related diseases (count:2)

Disease	PMID	Source
Height	23563607	GWAS catalog
Height	20881960	GWAS catalog

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1950500	TGM1	cis	cerebellum	SCAN
rs1950500	DHRS1	cis	cerebellum	SCAN
rs1950500	NGDN	cis	parietal	SCAN
rs1950500	NFATC4	cis	cerebellum	SCAN
rs1950500	EDDM3A	cis	parietal	SCAN
rs1950500	ADCY4	cis	cerebellum	SCAN
rs1950500	C14orf21	cis	brain	BrainEAC
rs1950500	OSGEP	cis	parietal	SCAN
rs1950500	CHMP4A	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24829200-24831400	Enhancers	Placenta	Placenta
2	chr14:24829800-24831000	Enhancers	Osteobl	bone
3	chr14:24829800-24832200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:24829800-24832400	Enhancers	NHDF-Ad	bronchial
5	chr14:24830400-24832400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:24830600-24831600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:24830600-24832400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:24830800-24831000	Enhancers	Primary monocytes fromperipheralblood	blood

Quick Search:

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

what's new

Quick links