Variant report

Variant	esv3494852
Chromosome Location	chr12:1437991-1438613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1418721..1420393-chr12:1437900..1440876,2	K562	blood:
2	chr12:1437851..1440138-chr12:1641572..1643434,2	K562	blood:
3	chr12:1435926..1439325-chr12:1439627..1443045,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552582977	chr12:1438025-1438026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79472822	chr12:1438093-1438094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372788794	chr12:1438129-1438130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113967541	chr12:1438152-1438153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs367614669	chr12:1438187-1438188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187207106	chr12:1438188-1438189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572766287	chr12:1438198-1438199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556783939	chr12:1438217-1438218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12315437	chr12:1438231-1438232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544046473	chr12:1438247-1438248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559168363	chr12:1438260-1438261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375526838	chr12:1438303-1438304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113378090	chr12:1438320-1438321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200448806	chr12:1438375-1438376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191628725	chr12:1438416-1438417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530041443	chr12:1438417-1438418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183540328	chr12:1438439-1438440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185790208	chr12:1438441-1438442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537261329	chr12:1438460-1438461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75731442	chr12:1438462-1438463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531004892	chr12:1438505-1438506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551980160	chr12:1438510-1438511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570295058	chr12:1438530-1438531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147834182	chr12:1438531-1438532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528410187	chr12:1438538-1438539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546486331	chr12:1438581-1438582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376487124	chr12:1438610-1438611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute myeloid leukemia	20729466	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
2	chr12:1387600-1441400	Weak transcription	HepG2	liver
3	chr12:1404800-1442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:1413800-1447600	Weak transcription	Gastric	stomach
5	chr12:1420200-1440600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:1424800-1442200	Weak transcription	Fetal Stomach	stomach
7	chr12:1428000-1442200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:1428000-1447600	Weak transcription	Ovary	ovary
9	chr12:1428200-1441600	Weak transcription	Pancreas	Pancrea
10	chr12:1428200-1442800	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:1428200-1443200	Weak transcription	Fetal Brain Female	brain
12	chr12:1428200-1447600	Weak transcription	Left Ventricle	heart
13	chr12:1428200-1448800	Weak transcription	Psoas Muscle	Psoas
14	chr12:1428200-1449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:1428200-1449000	Weak transcription	Aorta	Aorta
16	chr12:1428200-1455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:1428400-1438800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:1428400-1438800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:1428400-1440600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:1428400-1440800	Weak transcription	Brain Angular Gyrus	brain
22	chr12:1428600-1440400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:1428600-1440400	Weak transcription	NHEK	skin
24	chr12:1428600-1441200	Weak transcription	Brain Germinal Matrix	brain
25	chr12:1434600-1438800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:1434600-1439000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:1434600-1441200	Enhancers	K562	blood
28	chr12:1434600-1441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:1434600-1442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:1434600-1454800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:1434600-1473000	Weak transcription	Primary B cells from cord blood	blood
32	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
33	chr12:1435000-1442200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:1435200-1440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:1435600-1448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:1435600-1459600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:1435800-1443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:1436800-1438400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:1437000-1441400	Weak transcription	Fetal Heart	heart
40	chr12:1437000-1448800	Weak transcription	Right Ventricle	heart
41	chr12:1437200-1438200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:1437200-1438200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:1437800-1442000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:1438000-1449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:1438600-1439800	Enhancers	Fetal Intestine Large	intestine

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