Variant report

Variant	rs4799585
Chromosome Location	chr18:29190174-29190175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11081702	0.81[ASN][1000 genomes]
rs11659687	0.81[ASN][1000 genomes]
rs11662311	0.81[ASN][1000 genomes]
rs11664321	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1473342	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1667254	0.80[ASN][1000 genomes]
rs1667257	0.88[ASN][1000 genomes]
rs17660933	0.81[ASN][1000 genomes]
rs17740847	0.83[ASN][1000 genomes]
rs1791200	0.81[ASN][1000 genomes]
rs2034404	0.81[ASN][1000 genomes]
rs3764476	0.83[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3764478	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3764479	0.83[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3794884	0.83[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4799579	0.81[ASN][1000 genomes]
rs7232056	0.93[ASN][1000 genomes]
rs7235277	0.83[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs723744	0.83[CEU][hapmap];0.87[TSI][hapmap]

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	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
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29180800-29191000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:29185400-29191800	Enhancers	HepG2	liver
3	chr18:29186600-29190200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:29186800-29191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:29187600-29190200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:29189600-29191000	Enhancers	Fetal Brain Female	brain
7	chr18:29189600-29191200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr18:29189800-29191400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:29190000-29190200	Enhancers	Primary hematopoietic stem cells	blood
10	chr18:29190000-29191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:29190000-29191200	Enhancers	Fetal Brain Male	brain
12	chr18:29190000-29192400	Enhancers	Fetal Heart	heart

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