Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64166187..64170044-chr11:64170239..64173432,3	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10792432	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10897503	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs11231749	0.90[JPT][hapmap]
rs11231776	0.86[JPT][hapmap]
rs11824915	0.86[YRI][hapmap]
rs1662189	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083711	0.88[EUR][1000 genomes]
rs4930353	0.82[CEU][hapmap]
rs548333	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs561667	0.96[EUR][1000 genomes]
rs562560	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs564163	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs566409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61884054	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653565	0.80[GIH][hapmap];0.90[MEX][hapmap]
rs653578	0.80[GIH][hapmap]
rs731703	0.90[JPT][hapmap]
rs7936543	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7937023	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7937125	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7951702	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9787810	0.90[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs521319	TRMT112	cis	parietal	SCAN
rs521319	PPP1CA	cis	parietal	SCAN
rs521319	FKBP2	cis	cerebellum	SCAN
rs521319	CCDC88B	cis	cerebellum	SCAN
rs521319	CCS	cis	cerebellum	SCAN
rs521319	POLD4	cis	cerebellum	SCAN
rs521319	CD6	cis	cerebellum	SCAN
rs521319	RPS6KA4	cis	multi-tissue	Pritchard
rs521319	KDM2A	cis	parietal	SCAN
rs521319	FKBP2	cis	parietal	SCAN
rs521319	SLC25A45	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64168000-64173400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:64168200-64173000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:64168400-64173600	Weak transcription	Spleen	Spleen
4	chr11:64170800-64173600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:64171000-64175200	Weak transcription	Fetal Brain Male	brain
6	chr11:64171400-64173000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:64171400-64173000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:64171600-64172600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:64172000-64172200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:64172000-64173600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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