Variant report

Variant	rs760704
Chromosome Location	chr20:41100774-41100775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2205946	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs230153	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs230155	0.81[CHD][hapmap]
rs6030254	0.82[CHB][hapmap]
rs6030263	0.81[AMR][1000 genomes]
rs6065487	1.00[CEU][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6072755	0.83[CEU][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6072756	0.84[MEX][hapmap]
rs6093648	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6102852	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs6130141	0.85[CHD][hapmap]
rs6130145	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66783845	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv1059852	chr20:41087948-41217672	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv544276	chr20:41087948-41217672	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1063422	chr20:41095537-41114340	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs760704	C20orf111	cis	cerebellum	SCAN
rs760704	GDAP1L1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41099000-41102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:41099400-41101200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:41099400-41112400	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:41099600-41102200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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