Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40245063..40247132-chr12:40258548..40261407,2	K562	blood:

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

rs_ID	r²[population]
rs4238078	0.89[ASN][1000 genomes]
rs4267135	0.89[ASN][1000 genomes]
rs4321021	0.89[ASN][1000 genomes]
rs4427625	0.89[ASN][1000 genomes]
rs4639999	0.89[ASN][1000 genomes]
rs4768181	0.89[ASN][1000 genomes]
rs4768182	0.89[ASN][1000 genomes]
rs56221715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60002366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581338	0.89[ASN][1000 genomes]
rs66924731	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67574032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103008	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104960	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104976	0.93[EUR][1000 genomes]
rs73104985	0.93[EUR][1000 genomes]
rs73104987	0.93[EUR][1000 genomes]
rs73274668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276518	1.00[ASN][1000 genomes]
rs74086925	1.00[ASN][1000 genomes]
rs7969296	0.89[ASN][1000 genomes]
rs7975209	0.89[ASN][1000 genomes]
rs9645805	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40199200-40265400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:40232600-40267800	Weak transcription	Liver	Liver
6	chr12:40235200-40269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:40240400-40264600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40243400-40264000	Weak transcription	Fetal Kidney	kidney
9	chr12:40247000-40272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:40247200-40261200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:40247200-40272800	Weak transcription	Left Ventricle	heart
12	chr12:40248800-40268200	Weak transcription	Fetal Intestine Large	intestine
13	chr12:40253400-40265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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