Variant report

Variant	esv3503574
Chromosome Location	chr12:2017725-2018127
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	chr12:1947445..1949197-chr12:2016726..2018832,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562751512	chr12:2017737-2017738	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111949023	chr12:2017817-2017818	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532975102	chr12:2017834-2017835	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112625454	chr12:2017835-2017836	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7312639	chr12:2017845-2017846	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112165386	chr12:2017853-2017854	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61907995	chr12:2017892-2017893	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56310420	chr12:2017913-2017914	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7301117	chr12:2017931-2017932	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71057805	chr12:2017934-2017935	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566552720	chr12:2017938-2017939	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7311867	chr12:2017967-2017968	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57296286	chr12:2017970-2017971	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75924382	chr12:2017975-2017976	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9669364	chr12:2017977-2017978	Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7301239	chr12:2018009-2018010	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7312802	chr12:2018016-2018017	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61591365	chr12:2018018-2018019	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527354923	chr12:2018045-2018046	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111479797	chr12:2018048-2018049	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567103657	chr12:2018080-2018081	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569935294	chr12:2018084-2018085	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61907996	chr12:2018088-2018089	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557360627	chr12:2018107-2018108	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8181681	chr12:2018124-2018125	Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2016800-2017800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr12:2016800-2017800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:2016800-2017800	Enhancers	Left Ventricle	heart
4	chr12:2016800-2017800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr12:2017000-2017800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:2017000-2017800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr12:2017200-2017800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:2017200-2017800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:2017400-2017800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:2017400-2017800	Enhancers	Pancreas	Pancrea
11	chr12:2017400-2018000	Weak transcription	Spleen	Spleen
12	chr12:2017600-2017800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr12:2017600-2017800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:2017600-2017800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:2017600-2017800	Enhancers	Gastric	stomach
16	chr12:2017600-2017800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:2017600-2017800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:2017600-2017800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr12:2017600-2018200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:2017600-2018200	Enhancers	HMEC	breast
21	chr12:2017600-2018400	Bivalent Enhancer	Placenta	Placenta
22	chr12:2018000-2018400	ZNF genes & repeats	Spleen	Spleen

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