Variant report

Variant	rs7241267
Chromosome Location	chr18:30492666-30492667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:
2	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853423	1.00[JPT][hapmap]
rs11081789	0.85[AMR][1000 genomes];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]
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	0.93[AMR][1000 genomes];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]
rs1941283	1.00[JPT][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]
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]
rs4799676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799677	0.85[AMR][1000 genomes];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]
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];0.93[AMR][1000 genomes];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];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962968	1.00[JPT][hapmap]
rs9966484	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989606	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1056985	chr18:30486272-30540347	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1816769	chr18:30486596-30518855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30490600-30493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:30491200-30493000	Enhancers	NHDF-Ad	bronchial
3	chr18:30491200-30495400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:30492200-30495200	Weak transcription	HSMM	muscle

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