Variant report

Variant	esv3483140
Chromosome Location	chr12:12668704-12669254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188934337	chr12:12668772-12668773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148517342	chr12:12668812-12668813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142866879	chr12:12668871-12668872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553721418	chr12:12668896-12668897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578239884	chr12:12668916-12668917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545621601	chr12:12668925-12668926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563778011	chr12:12668930-12668931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150860045	chr12:12668962-12668963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543186319	chr12:12669005-12669006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561798168	chr12:12669006-12669007	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528878568	chr12:12669038-12669039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200057859	chr12:12669042-12669043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200829986	chr12:12669043-12669044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199706369	chr12:12669053-12669054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546953927	chr12:12669121-12669122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565645061	chr12:12669152-12669153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533009189	chr12:12669159-12669160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551648446	chr12:12669160-12669161	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569786986	chr12:12669161-12669162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537230961	chr12:12669167-12669168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537849056	chr12:12669172-12669173	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7314806	chr12:12669180-12669181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535027031	chr12:12669185-12669186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553356727	chr12:12669186-12669187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578069221	chr12:12669194-12669195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113680273	chr12:12669198-12669199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	17690704	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
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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	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	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12653800-12669000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:12659000-12669200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:12659800-12669000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:12659800-12669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
15	chr12:12660200-12670000	Weak transcription	Fetal Lung	lung
16	chr12:12660400-12669600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:12660400-12670000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:12660400-12670000	Weak transcription	HUVEC	blood vessel
19	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
20	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
22	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
23	chr12:12660400-12672800	Weak transcription	K562	blood
24	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:12660800-12670800	Weak transcription	Left Ventricle	heart
26	chr12:12660800-12672400	Weak transcription	Ovary	ovary
27	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
28	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:12661800-12669200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:12662200-12669000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:12662200-12669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:12662200-12672400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:12662400-12669200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:12662600-12669800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:12663400-12672400	Weak transcription	HSMMtube	muscle
36	chr12:12663600-12671400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:12663600-12672000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:12664000-12670600	Weak transcription	Gastric	stomach
39	chr12:12664000-12690400	Weak transcription	NHLF	lung
40	chr12:12664200-12669800	Weak transcription	Small Intestine	intestine
41	chr12:12664400-12670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:12664600-12672600	Weak transcription	Osteobl	bone
43	chr12:12664800-12670000	Weak transcription	Stomach Mucosa	stomach
44	chr12:12664800-12673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:12665000-12670000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:12665000-12670000	Weak transcription	Lung	lung
47	chr12:12665000-12671800	Weak transcription	NH-A	brain
48	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
49	chr12:12665000-12685600	Weak transcription	HMEC	breast
50	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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