Variant report

Variant	esv3365442
Chromosome Location	chr12:1480516-1480829
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	chr12:1477160..1479008-chr12:1480395..1483486,3	K562	blood:
2	chr12:1478838..1481812-chr12:1484445..1488758,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530809969	chr12:1480520-1480521	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544098737	chr12:1480543-1480544	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546263820	chr12:1480570-1480571	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141315983	chr12:1480586-1480587	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145043645	chr12:1480592-1480593	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187355672	chr12:1480682-1480683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74057188	chr12:1480687-1480688	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574357192	chr12:1480695-1480696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375967381	chr12:1480747-1480748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574242485	chr12:1480759-1480760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35900041	chr12:1480786-1480787	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4611267	chr12:1480787-1480788	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191878097	chr12:1480797-1480798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
6	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
7	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
8	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:1461400-1483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:1461600-1481600	Weak transcription	HMEC	breast
15	chr12:1465400-1489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:1466600-1483000	Weak transcription	Fetal Stomach	stomach
17	chr12:1466800-1483200	Weak transcription	NHLF	lung
18	chr12:1467400-1481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:1470000-1482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:1470400-1481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:1470800-1482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:1471000-1480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:1471800-1487200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:1472000-1487800	Weak transcription	K562	blood
25	chr12:1473200-1481000	Weak transcription	Right Atrium	heart
26	chr12:1473200-1500400	Weak transcription	Right Ventricle	heart
27	chr12:1473400-1485000	Weak transcription	Left Ventricle	heart
28	chr12:1474000-1483800	Weak transcription	Primary B cells from cord blood	blood
29	chr12:1475200-1481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:1475200-1482200	Weak transcription	NHEK	skin
31	chr12:1475600-1496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:1476200-1488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:1477000-1486200	Weak transcription	HepG2	liver
34	chr12:1477000-1489400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:1477000-1489400	Weak transcription	Fetal Brain Male	brain
36	chr12:1477000-1489400	Weak transcription	Lung	lung
37	chr12:1477000-1500000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:1477200-1481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:1477200-1483200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:1477200-1483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:1477200-1484400	Weak transcription	Fetal Brain Female	brain
42	chr12:1477200-1489000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:1477200-1500000	Weak transcription	Fetal Kidney	kidney
44	chr12:1477400-1499800	Weak transcription	HSMM	muscle
45	chr12:1477800-1483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:1477800-1496800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:1477800-1499800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:1478000-1481000	Weak transcription	Thymus	Thymus
49	chr12:1478200-1481000	Weak transcription	Liver	Liver
50	chr12:1478400-1520400	Weak transcription	Pancreas	Pancrea

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