Variant report

Variant	esv2211696
Chromosome Location	chr12:10515177-10515178
allele	n/a
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	MAFF	chr12:10515047-10515219	K562	blood:	n/a	n/a
2	RELA	chr12:10515160-10518228	GM12891	blood:	n/a	n/a
3	TBP	chr12:10515175-10515231	K562	blood:	n/a	n/a
4	ZNF384	chr12:10515051-10515797	K562	blood:	n/a	n/a
5	ZNF384	chr12:10515056-10515708	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000256155	TF binding region
ENSG00000245648	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373668531	chr12:10515177-10515178	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10507400-10515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10508000-10515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:10511600-10516400	Weak transcription	Gastric	stomach
4	chr12:10511800-10516200	Weak transcription	Thymus	Thymus
5	chr12:10512200-10515200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:10512800-10515200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:10513000-10515600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:10513000-10516400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:10513400-10515400	Enhancers	HMEC	breast
10	chr12:10513400-10516200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:10513400-10517000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:10513600-10515200	Enhancers	Fetal Kidney	kidney
13	chr12:10513600-10516200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:10513600-10516400	Enhancers	Fetal Lung	lung
15	chr12:10513600-10516400	Enhancers	Osteobl	bone
16	chr12:10513600-10516600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:10513600-10516600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:10513600-10516600	Weak transcription	Aorta	Aorta
19	chr12:10513800-10515400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:10513800-10515600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:10514000-10515400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:10514000-10516200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:10514000-10516200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10514000-10516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:10514000-10516400	Weak transcription	Pancreas	Pancrea
26	chr12:10514000-10516600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:10514000-10516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:10514000-10517200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:10514200-10515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:10514200-10515200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:10514200-10515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:10514200-10515600	Enhancers	Fetal Intestine Small	intestine
33	chr12:10514200-10515800	Weak transcription	Brain Germinal Matrix	brain
34	chr12:10514200-10516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:10514400-10515200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:10514400-10515200	Enhancers	Colon Smooth Muscle	Colon
37	chr12:10514400-10515400	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:10514400-10515600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:10514400-10515600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:10514400-10515600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:10514400-10515600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:10514400-10515600	Weak transcription	NH-A	brain
43	chr12:10514400-10516200	Enhancers	Fetal Intestine Large	intestine
44	chr12:10514400-10516400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:10514400-10516400	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:10514400-10516400	Enhancers	Brain Substantia Nigra	brain
47	chr12:10514400-10516400	Enhancers	Placenta	Placenta
48	chr12:10514400-10516400	Enhancers	Stomach Mucosa	stomach
49	chr12:10514400-10516400	Weak transcription	HSMMtube	muscle
50	chr12:10514400-10516600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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