Variant report

Variant	rs11661247
Chromosome Location	chr18:29138106-29138107
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1042769	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12326068	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs1449077	0.91[EUR][1000 genomes]
rs1626261	1.00[CEU][hapmap]
rs1667212	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1667213	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1941939	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2096919	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2276150	1.00[CEU][hapmap]
rs2704039	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs2704041	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2848664	0.90[EUR][1000 genomes]
rs28522238	0.83[EUR][1000 genomes]
rs6506931	0.84[EUR][1000 genomes]
rs8084771	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs9304101	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs9947401	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs9951860	0.83[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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv576635	chr18:29129931-29148814	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11661247	DSG2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29123600-29142200	Weak transcription	Fetal Kidney	kidney
2	chr18:29129200-29143200	Weak transcription	Gastric	stomach
3	chr18:29136600-29138600	Weak transcription	Liver	Liver
4	chr18:29136600-29145400	Weak transcription	Fetal Intestine Small	intestine
5	chr18:29137800-29139000	Enhancers	HepG2	liver

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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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