Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105329305..105332237-chr12:105335409..105337883,2	K562	blood:
2	chr12:105333400..105336266-chr12:105343933..105346913,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction
ENSG00000265054	Chromatin interaction

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

rs_ID	r²[population]
rs10507185	0.88[CEU][hapmap]
rs10778354	0.88[CEU][hapmap]
rs10778357	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861282	0.88[CEU][hapmap]
rs10861291	0.88[CEU][hapmap]
rs10861292	0.87[CHB][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112234	0.88[CEU][hapmap]
rs12230601	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17829927	0.88[CEU][hapmap]
rs2248978	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2252839	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2468095	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2468396	0.81[EUR][1000 genomes]
rs2468397	0.88[CEU][hapmap]
rs2468398	0.83[EUR][1000 genomes]
rs3890816	0.88[CEU][hapmap]
rs4409923	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4644704	0.88[CEU][hapmap]
rs4964305	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7133934	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7959777	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs7965314	0.85[AMR][1000 genomes]
rs7973707	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4964116	C12orf42	cis	cerebellum	SCAN
rs4964116	ASCL1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105323600-105338000	Weak transcription	Pancreas	Pancrea
2	chr12:105332400-105336000	Weak transcription	Aorta	Aorta
3	chr12:105332400-105342400	Weak transcription	Gastric	stomach
4	chr12:105333200-105346200	Weak transcription	HepG2	liver
5	chr12:105335600-105336000	Enhancers	Liver	Liver
6	chr12:105335600-105337200	Weak transcription	Stomach Mucosa	stomach

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