Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45576218..45577748-chr11:45588306..45590762,2	K562	blood:
2	chr11:45576248..45578185-chr11:45589262..45591750,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10734533	0.85[ASN][1000 genomes]
rs10838492	0.84[ASN][1000 genomes]
rs12574431	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12575810	0.94[ASN][1000 genomes]
rs12576823	0.85[ASN][1000 genomes]
rs12577157	0.85[ASN][1000 genomes]
rs1374750	0.84[ASN][1000 genomes]
rs1562458	0.84[ASN][1000 genomes]
rs1562459	0.85[ASN][1000 genomes]
rs17195773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35198848	0.85[ASN][1000 genomes]
rs55900308	0.91[ASN][1000 genomes]
rs55989803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60227611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60865673	0.94[ASN][1000 genomes]
rs72895277	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72899266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899277	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901205	0.95[ASN][1000 genomes]
rs72904962	0.94[ASN][1000 genomes]
rs72904977	0.94[ASN][1000 genomes]
rs72904985	0.94[ASN][1000 genomes]
rs72910637	0.85[ASN][1000 genomes]
rs72910671	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3352980	chr11:45590176-45593574	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17195752	LRP4	cis	cerebellum	SCAN
rs17195752	MTCH2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45584000-45590400	Weak transcription	Fetal Brain Male	brain
2	chr11:45585800-45598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45588800-45590600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45589000-45591400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:45589200-45590400	Enhancers	HSMMtube	muscle
6	chr11:45589400-45590600	Enhancers	Fetal Stomach	stomach
7	chr11:45590200-45591400	Enhancers	Fetal Muscle Trunk	muscle

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