Variant report

Variant	rs4799676
Chromosome Location	chr18:30486130-30486131
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853423	1.00[JPT][hapmap]
rs11081789	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660802	1.00[ASN][1000 genomes]
rs12457058	0.82[AMR][1000 genomes];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]
rs1941254	1.00[JPT][hapmap]
rs1941261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941262	0.82[AMR][1000 genomes];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	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941281	1.00[JPT][hapmap]
rs1941282	1.00[JPT][hapmap]
rs1941283	1.00[JPT][hapmap]
rs2000653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032183	1.00[AMR][1000 genomes];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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799337	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]
rs4799677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506993	1.00[ASN][1000 genomes]
rs6506996	0.81[AMR][1000 genomes];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	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230824	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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];0.88[AMR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950067	0.88[AMR][1000 genomes];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[JPT][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:4 , 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	nsv2250	chr18:30473758-30505927	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1060448	chr18:30481131-30540347	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30483200-30486600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr18:30485400-30487600	Enhancers	Fetal Brain Male	brain
3	chr18:30485600-30489200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:30485800-30486800	Weak transcription	Ovary	ovary
5	chr18:30485800-30489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:30486000-30486800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:30486000-30487000	Enhancers	HMEC	breast

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