Variant report

Variant	rs8119002
Chromosome Location	chr20:41072290-41072291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11906033	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs13433096	1.00[ASN][1000 genomes]
rs1467394	0.89[ASW][hapmap];0.87[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049969	0.87[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs57920496	0.82[EUR][1000 genomes]
rs73271582	0.80[EUR][1000 genomes]
rs73271583	0.82[EUR][1000 genomes]
rs8122692	0.83[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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8119002	SPINT3	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41069600-41072400	Enhancers	Fetal Brain Male	brain
2	chr20:41069800-41072600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:41069800-41072600	Enhancers	Fetal Muscle Leg	muscle
4	chr20:41070000-41072400	Enhancers	Adipose Nuclei	Adipose
5	chr20:41070000-41077800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41070800-41072400	Enhancers	Brain Germinal Matrix	brain
7	chr20:41072000-41073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:41072000-41078200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:41072200-41072400	Enhancers	Fetal Muscle Trunk	muscle

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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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