Variant report

Variant	esv2512154
Chromosome Location	chr12:8825370-8828159
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	CHD1	chr12:8827973-8828070	GM12878	blood:	n/a	n/a
2	CTCF	chr12:8826435-8826444	GM10266	blood:	n/a	n/a
3	EP300	chr12:8828055-8828677	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:8827969-8828161	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr12:8828087-8828340	GM12891	blood:	n/a	n/a
6	SPI1	chr12:8827995-8828396	HL-60	blood:	n/a	n/a
7	SPI1	chr12:8828008-8828474	HL-60	blood:	n/a	n/a
8	STAT3	chr12:8826651-8826738	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr12:8828141-8828542	GM12878	blood:	n/a	n/a
10	ZNF384	chr12:8828102-8828661	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000256004	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185850733	chr12:8825475-8825476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145277250	chr12:8825540-8825541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113540533	chr12:8825604-8825605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368469084	chr12:8825723-8825724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113104991	chr12:8825781-8825782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562808869	chr12:8825808-8825809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189980885	chr12:8825978-8825979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371934750	chr12:8825983-8825984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375299395	chr12:8826027-8826028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118047958	chr12:8826072-8826073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193183448	chr12:8826077-8826078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201705267	chr12:8826146-8826147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541975561	chr12:8826188-8826189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141279728	chr12:8826248-8826249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145009942	chr12:8826427-8826428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61919239	chr12:8826441-8826442	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560831746	chr12:8826471-8826472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138791345	chr12:8826482-8826483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529841353	chr12:8826611-8826612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545946291	chr12:8826617-8826618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368688051	chr12:8826620-8826621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184589827	chr12:8826633-8826634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115671008	chr12:8826705-8826706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs117772625	chr12:8826731-8826732	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs371721874	chr12:8826748-8826749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369386271	chr12:8826750-8826751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534647958	chr12:8826753-8826754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140502482	chr12:8826781-8826782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551565090	chr12:8826818-8826819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201555189	chr12:8826819-8826820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199782137	chr12:8826834-8826835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375878298	chr12:8826835-8826836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200581426	chr12:8826836-8826837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145920822	chr12:8826872-8826873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148161216	chr12:8826903-8826904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141966072	chr12:8826935-8826936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552514419	chr12:8826958-8826959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150658980	chr12:8826960-8826961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569143682	chr12:8827001-8827002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562023946	chr12:8827028-8827029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113368254	chr12:8827087-8827088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548324801	chr12:8827124-8827125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111609715	chr12:8827145-8827146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116143681	chr12:8827201-8827202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188560301	chr12:8827206-8827207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147142114	chr12:8827215-8827216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140336665	chr12:8827259-8827260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111736504	chr12:8827288-8827289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181287046	chr12:8827291-8827292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185148335	chr12:8827299-8827300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8811800-8829600	Weak transcription	Thymus	Thymus
2	chr12:8821600-8845000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:8823800-8828000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:8824000-8833600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:8825000-8827800	Weak transcription	Adipose Nuclei	Adipose
6	chr12:8827600-8827800	Enhancers	Pancreas	Pancrea
7	chr12:8827600-8828800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:8827600-8829000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:8827600-8829400	Enhancers	HUVEC	blood vessel
10	chr12:8827800-8828000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:8827800-8828400	Enhancers	Brain Anterior Caudate	brain
12	chr12:8827800-8828600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:8827800-8828800	Enhancers	Fetal Kidney	kidney
14	chr12:8827800-8829000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:8827800-8829600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:8827800-8829800	Enhancers	Adipose Nuclei	Adipose
17	chr12:8828000-8828400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:8828000-8828400	Enhancers	Hela-S3	cervix
19	chr12:8828000-8828600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:8828000-8828600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:8828000-8828600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:8828000-8828800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:8828000-8828800	Enhancers	Fetal Intestine Small	intestine
24	chr12:8828000-8829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:8828000-8830000	Enhancers	Primary T cells from cord blood	blood
26	chr12:8828000-8833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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