Variant report

Variant	rs144752316
Chromosome Location	chr12:9243930-9243931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9242469-9248398	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:9242414-9246918	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:9243436-9244083	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:9243873-9244087	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:9243759-9244101	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:9243837-9243988	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:9242503-9246785	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
A2M	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
2	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
3	chr12:9232200-9264600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:9232400-9244600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:9235000-9253600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:9235200-9265800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:9236600-9258800	Weak transcription	Fetal Heart	heart
8	chr12:9237200-9252200	Weak transcription	Psoas Muscle	Psoas
9	chr12:9237200-9261200	Strong transcription	Liver	Liver
10	chr12:9237200-9265200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:9237400-9264200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:9237600-9246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:9237800-9258400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:9238600-9246800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:9238600-9265800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:9238800-9246600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:9239400-9262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:9239400-9264000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:9239600-9265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
21	chr12:9241000-9244000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:9241000-9246600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:9241200-9246000	Strong transcription	Left Ventricle	heart
24	chr12:9241200-9247000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:9241200-9262800	Strong transcription	Adipose Nuclei	Adipose
26	chr12:9241600-9264000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:9242400-9246800	Strong transcription	Aorta	Aorta
28	chr12:9242400-9247000	Strong transcription	Ovary	ovary
29	chr12:9242600-9245400	Strong transcription	Rectal Smooth Muscle	rectum
30	chr12:9242600-9246200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:9242800-9245200	Strong transcription	Gastric	stomach
32	chr12:9242800-9245600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:9242800-9246000	Strong transcription	Placenta	Placenta
34	chr12:9242800-9246800	Strong transcription	Fetal Stomach	stomach
35	chr12:9242800-9246800	Strong transcription	Spleen	Spleen
36	chr12:9243000-9246800	Strong transcription	Lung	lung
37	chr12:9243000-9251400	Weak transcription	Primary T cells from cord blood	blood
38	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
39	chr12:9243400-9244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:9243400-9245400	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:9243400-9245600	Weak transcription	Fetal Brain Male	brain
42	chr12:9243400-9265400	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:9243600-9244200	Weak transcription	Right Ventricle	heart
44	chr12:9243600-9245200	Strong transcription	Colonic Mucosa	Colon
45	chr12:9243600-9247000	Strong transcription	Fetal Lung	lung
46	chr12:9243800-9244400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:9243800-9245600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:9243800-9252000	Strong transcription	HepG2	liver

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