Variant report

Variant	rs1573707
Chromosome Location	chr20:40945639-40945640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2227158	1.00[ASW][hapmap];0.91[GIH][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs6030129	1.00[ASW][hapmap];0.84[CEU][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6072684	0.89[AFR][1000 genomes]
rs6072688	0.91[ASW][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6130103	0.81[CEU][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
rs1573707	WFDC8	cis	parietal	SCAN
rs1573707	CHD6	cis	parietal	SCAN
rs1573707	MAFB	cis	parietal	SCAN
rs1573707	GTSF1L	cis	cerebellum	SCAN

Chromatin state (count:4 , 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	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:40945200-40945800	Enhancers	Brain Cingulate Gyrus	brain
4	chr20:40945200-40945800	Enhancers	Brain Hippocampus Middle	brain

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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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