Variant report

Variant	rs605833
Chromosome Location	chr11:119969700-119969701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10790366	0.97[ASN][1000 genomes]
rs10892535	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217688	0.83[ASN][1000 genomes]
rs11217689	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1628536	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1629201	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1629347	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1632452	0.99[ASN][1000 genomes]
rs1670196	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1670197	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1670198	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1787025	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1787026	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1787027	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787028	0.99[ASN][1000 genomes]
rs1790471	0.99[ASN][1000 genomes]
rs1790472	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1790473	0.96[EUR][1000 genomes]
rs582951	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs584653	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs590270	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs594081	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs600484	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs605230	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs610075	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs611656	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs613004	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617320	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs623353	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs624877	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs626302	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs637464	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs637685	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs639775	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs654884	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6589796	0.84[AFR][1000 genomes]
rs664579	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs664590	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665008	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs683743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs688050	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs688051	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs694639	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs605833	DSCAML1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119965800-119970400	Enhancers	Fetal Intestine Large	intestine
2	chr11:119966400-119970000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:119966600-119970000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119966800-119978200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:119967800-119970400	Enhancers	Fetal Intestine Small	intestine
6	chr11:119969000-119973400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:119969200-119969800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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