Variant report

Variant	rs562854275
Chromosome Location	chr12:40493344-40493345
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40481786..40484578-chr12:40492831..40495668,2	MCF-7	breast:
2	12:40491106-40496076..12:40793507-40812339	GM12878	blood:
3	chr12:40480723..40487168-chr12:40489659..40495663,7	K562	blood:
4	chr12:40487964..40490354-chr12:40491497..40493433,2	K562	blood:
5	chr12:40490476..40493395-chr12:40497696..40500729,3	MCF-7	breast:
6	chr12:40490927..40494840-chr12:40498273..40501299,7	MCF-7	breast:
7	chr12:40485743..40487373-chr12:40492578..40494956,2	MCF-7	breast:
8	12:40491106-40496076..12:40703633-40711447	GM12878	blood:
9	chr12:40484990..40487793-chr12:40489552..40494427,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction
ENSG00000205592	Chromatin interaction
ENSG00000151229	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1816874	chr12:40492814-40499934	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv1822895	chr12:40492814-40499934	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv1838004	chr12:40492814-40499934	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv1841992	chr12:40492814-40499934	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
8	esv1850635	chr12:40492814-40499934	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
9	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:40474400-40497000	Weak transcription	Ovary	ovary
4	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
8	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:40477000-40497000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:40477200-40495200	Weak transcription	Hela-S3	cervix
11	chr12:40477400-40496800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:40479000-40493400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:40480200-40493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:40480600-40496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:40482400-40493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:40485600-40496800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:40487000-40497400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:40491000-40497000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:40492000-40494600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:40492000-40495400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:40492200-40493600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:40492400-40498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:40492600-40494000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:40492600-40494400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:40492600-40494600	Enhancers	Fetal Intestine Large	intestine
28	chr12:40492600-40494600	Enhancers	Stomach Mucosa	stomach
29	chr12:40492800-40494200	Enhancers	Brain Hippocampus Middle	brain
30	chr12:40492800-40494200	Enhancers	Fetal Intestine Small	intestine
31	chr12:40492800-40494400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:40492800-40496800	Weak transcription	Pancreas	Pancrea
33	chr12:40492800-40497600	Weak transcription	Left Ventricle	heart
34	chr12:40492800-40498000	Weak transcription	Gastric	stomach
35	chr12:40492800-40498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:40492800-40498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:40492800-40498600	Weak transcription	Lung	lung
38	chr12:40493000-40494000	Enhancers	HepG2	liver
39	chr12:40493000-40494200	Flanking Active TSS	K562	blood
40	chr12:40493000-40496600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:40493200-40493600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:40493200-40493600	Enhancers	Fetal Kidney	kidney
43	chr12:40493200-40493800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:40493200-40493800	Enhancers	Fetal Heart	heart
45	chr12:40493200-40494200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:40493200-40494200	Enhancers	A549	lung

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