Variant report

Variant	rs4799592
Chromosome Location	chr18:29301127-29301128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10048246	0.85[AMR][1000 genomes]
rs11081709	0.82[EUR][1000 genomes]
rs11662888	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11664049	0.84[AMR][1000 genomes]
rs12326689	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1972988	0.87[CHB][hapmap]
rs8092533	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3330159	chr18:29291412-29309318	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4799592	DSC1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29299600-29303400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr18:29299600-29303600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:29299800-29303400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29299800-29303400	Weak transcription	Brain Anterior Caudate	brain
5	chr18:29300000-29302600	Weak transcription	Liver	Liver
6	chr18:29300200-29301200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:29300200-29302000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr18:29300600-29303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:29300600-29303800	Weak transcription	Psoas Muscle	Psoas
10	chr18:29300800-29301200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:29300800-29302200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:29300800-29304000	Weak transcription	Esophagus	oesophagus
13	chr18:29300800-29304000	Weak transcription	Left Ventricle	heart
14	chr18:29301000-29302400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:29301000-29303600	Weak transcription	Placenta Amnion	Placenta Amnion

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