Variant report

Variant	rs189610775
Chromosome Location	chr12:40630366-40630367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
2	chr12:40619400-40644400	Weak transcription	Gastric	stomach
3	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
6	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:40620800-40634800	Weak transcription	Lung	lung
9	chr12:40620800-40634800	Weak transcription	Pancreas	Pancrea
10	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
14	chr12:40621000-40632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:40621200-40631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:40621200-40632000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:40621400-40632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
23	chr12:40624600-40631200	Weak transcription	A549	lung
24	chr12:40626600-40630600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:40628000-40631400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:40628200-40631400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:40628400-40632000	Strong transcription	Primary B cells from cord blood	blood
28	chr12:40628800-40631200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:40629000-40630600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:40629200-40633400	Strong transcription	Adipose Nuclei	Adipose
31	chr12:40629200-40635600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:40629400-40632200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:40629800-40631200	Strong transcription	Liver	Liver
34	chr12:40630000-40630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:40630000-40630600	Strong transcription	Aorta	Aorta
36	chr12:40630000-40630600	Strong transcription	Ovary	ovary
37	chr12:40630000-40632000	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:40630200-40630600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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