Variant report

Variant	esv3503940
Chromosome Location	chr12:22253055-22253619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22253611..22254718-chr12:22488160..22489046,5	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560195109	chr12:22253088-22253089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192606316	chr12:22253142-22253143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55717112	chr12:22253176-22253177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552294923	chr12:22253202-22253203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548240560	chr12:22253203-22253204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530897078	chr12:22253205-22253206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550710052	chr12:22253216-22253217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562628629	chr12:22253247-22253248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530982050	chr12:22253249-22253250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368633977	chr12:22253282-22253283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183319996	chr12:22253300-22253301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547239381	chr12:22253313-22253314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567075614	chr12:22253332-22253333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7312934	chr12:22253333-22253334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558872802	chr12:22253339-22253340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7312748	chr12:22253436-22253437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575837387	chr12:22253453-22253454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56401508	chr12:22253464-22253465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11536005	chr12:22253468-22253469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554704927	chr12:22253469-22253470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368516265	chr12:22253483-22253484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184993205	chr12:22253598-22253599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144494840	chr12:22253618-22253619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22249200-22254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22252000-22254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:22253000-22254200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:22253600-22254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:22253600-22255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:22253600-22255800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:22253600-22256800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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