Variant report

Variant	rs4799337
Chromosome Location	chr18:30470148-30470149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10853423	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11081789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660802	1.00[ASN][1000 genomes]
rs12457058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954449	1.00[JPT][hapmap]
rs1539817	1.00[ASN][1000 genomes]
rs16963902	1.00[JPT][hapmap]
rs1893245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893246	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1941254	1.00[JPT][hapmap]
rs1941261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941267	1.00[ASN][1000 genomes]
rs1941270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941281	1.00[JPT][hapmap]
rs1941282	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1941283	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2000653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155785	1.00[ASN][1000 genomes]
rs2155786	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799671	1.00[ASN][1000 genomes]
rs4799675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506993	1.00[ASN][1000 genomes]
rs6506996	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650651	1.00[ASN][1000 genomes]
rs6650652	1.00[ASN][1000 genomes]
rs6650653	1.00[ASN][1000 genomes]
rs7228416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955296	1.00[EUR][1000 genomes]
rs768140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8090702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097557	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098125	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304114	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948368	1.00[JPT][hapmap]
rs948375	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950067	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952405	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962968	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9966484	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989606	1.00[ASN][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	esv2758474	chr18:30383327-30574737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758720	chr18:30383327-30574737	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv32785	chr18:30413359-30471471	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30460800-30470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:30466200-30471200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr18:30467400-30471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:30467600-30470600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:30468200-30471200	Weak transcription	Primary B cells from cord blood	blood
6	chr18:30468400-30471600	Weak transcription	Fetal Intestine Large	intestine
7	chr18:30468600-30470200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:30468600-30471200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:30468800-30471400	Enhancers	Dnd41	blood
10	chr18:30469200-30470600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:30469200-30470800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:30469200-30470800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:30469400-30470200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr18:30469400-30470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:30469400-30470400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:30469600-30470800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:30469800-30470400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:30469800-30475200	Weak transcription	Pancreas	Pancrea
19	chr18:30470000-30470400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr18:30470000-30470600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr18:30470000-30470800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr18:30470000-30471600	Weak transcription	HepG2	liver

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