Variant report

Variant	rs2227157
Chromosome Location	chr20:40944812-40944813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs6016745	0.93[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs6016749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6030129	0.88[CEU][hapmap]
rs6030133	0.96[ASN][1000 genomes]
rs6030137	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs6030139	0.91[JPT][hapmap]
rs6072686	0.82[CHD][hapmap]
rs6072687	0.93[CHB][hapmap];1.00[CHD][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs6093615	0.84[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6093617	0.96[ASN][1000 genomes]
rs6093618	0.96[ASN][1000 genomes]
rs6093622	0.94[ASN][1000 genomes]
rs6093623	0.82[ASN][1000 genomes]
rs6102774	0.93[CHB][hapmap];0.97[CHD][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs6102775	0.93[CHB][hapmap];0.97[CHD][hapmap]
rs6130103	0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73273150	0.95[ASN][1000 genomes]
rs8122334	0.80[GIH][hapmap]

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	esv3351291	chr20:40922654-40950938	Weak transcription Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2227157	WFDC10B	cis	cerebellum	SCAN
rs2227157	WFDC8	cis	parietal	SCAN
rs2227157	GTSF1L	cis	cerebellum	SCAN
rs2227157	MAFB	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40939200-40946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40942000-40945000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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