Variant report

Variant	rs4296099
Chromosome Location	chr12:40249426-40249427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11173668	1.00[ASN][1000 genomes]
rs11173671	1.00[ASN][1000 genomes]
rs11173764	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173862	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173920	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174086	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4542485	1.00[EUR][1000 genomes];1.00[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40193800-40255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40199200-40265400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:40209400-40249800	Weak transcription	Aorta	Aorta
5	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:40222200-40259400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:40232600-40267800	Weak transcription	Liver	Liver
9	chr12:40233000-40259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:40233000-40259800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40233200-40250400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:40233600-40257400	Weak transcription	Right Ventricle	heart
13	chr12:40235200-40269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:40240400-40264600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40241400-40250000	Weak transcription	Lung	lung
16	chr12:40243400-40264000	Weak transcription	Fetal Kidney	kidney
17	chr12:40244400-40259800	Weak transcription	Adipose Nuclei	Adipose
18	chr12:40246600-40260800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:40247000-40272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40247200-40249800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:40247200-40261200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:40247200-40272800	Weak transcription	Left Ventricle	heart
23	chr12:40247400-40249800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:40248800-40268200	Weak transcription	Fetal Intestine Large	intestine

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