Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56467248..56469891-chr14:56470182..56472447,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1188175	0.92[ASN][1000 genomes]
rs1188176	0.92[ASN][1000 genomes]
rs1188179	0.92[ASN][1000 genomes]
rs1188180	0.92[ASN][1000 genomes]
rs1188181	0.92[ASN][1000 genomes]
rs1188188	0.85[EUR][1000 genomes]
rs1188194	0.88[EUR][1000 genomes]
rs1188196	0.88[EUR][1000 genomes]
rs1188198	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1188199	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1188200	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1188204	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1188206	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1201387	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1203011	0.92[ASN][1000 genomes]
rs1211177	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1211455	0.89[EUR][1000 genomes]
rs1212200	0.89[EUR][1000 genomes]
rs1212974	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12432868	0.80[EUR][1000 genomes]
rs1480657	0.83[EUR][1000 genomes]
rs1480658	0.84[EUR][1000 genomes]
rs1480659	0.84[EUR][1000 genomes]
rs1623669	0.84[EUR][1000 genomes]
rs1630156	0.81[EUR][1000 genomes]
rs1679800	0.82[EUR][1000 genomes]
rs1679801	0.82[EUR][1000 genomes]
rs1679807	0.81[EUR][1000 genomes]
rs1756622	0.81[EUR][1000 genomes]
rs1756624	0.82[EUR][1000 genomes]
rs1756628	0.82[EUR][1000 genomes]
rs1756630	0.82[EUR][1000 genomes]
rs60269373	0.85[EUR][1000 genomes]
rs922655	0.88[EUR][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	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1188203	ACTR10	cis	cerebellum	SCAN
rs1188203	PSMC6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56466400-56471000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:56467200-56469600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:56468200-56468600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr14:56468200-56468600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr14:56468200-56469400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr14:56468200-56473000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:56468400-56471400	Enhancers	NH-A	brain

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