Variant report

Variant	nsv898858
Chromosome Location	chr12:20775890-20791982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 701 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045338	chr12:20775890-20775891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11045339	chr12:20775928-20775929	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541239226	chr12:20775939-20775940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538923938	chr12:20775951-20775952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577046613	chr12:20775968-20775969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537916970	chr12:20775973-20775974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116431644	chr12:20775977-20775978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112256383	chr12:20776008-20776009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529573399	chr12:20776029-20776030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35033183	chr12:20776054-20776055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549150755	chr12:20776067-20776068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559488135	chr12:20776072-20776073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528707563	chr12:20776073-20776074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182072749	chr12:20776079-20776080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571752209	chr12:20776081-20776082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537047928	chr12:20776087-20776088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551021674	chr12:20776094-20776095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143953961	chr12:20776095-20776096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73236344	chr12:20776142-20776143	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77465112	chr12:20776171-20776172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572097003	chr12:20776218-20776219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11310271	chr12:20776222-20776223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537166109	chr12:20776245-20776246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146421289	chr12:20776281-20776282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577716796	chr12:20776306-20776307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542995170	chr12:20776447-20776448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140840084	chr12:20776454-20776455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573317426	chr12:20776481-20776482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542886898	chr12:20776486-20776487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559999304	chr12:20776501-20776502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144655742	chr12:20776506-20776507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551996120	chr12:20776532-20776533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71442258	chr12:20776562-20776563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9738519	chr12:20776589-20776590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113123456	chr12:20776616-20776617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557007526	chr12:20776620-20776621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145405116	chr12:20776625-20776626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373444347	chr12:20776627-20776628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112166307	chr12:20776643-20776644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79701364	chr12:20776654-20776655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111301309	chr12:20776670-20776671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542571818	chr12:20776674-20776675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71442259	chr12:20776681-20776682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138079886	chr12:20776693-20776694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5026916	chr12:20776697-20776698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567633200	chr12:20776708-20776709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142837122	chr12:20776717-20776718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150647726	chr12:20776722-20776723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71039959	chr12:20776723-20776724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61912140	chr12:20776724-20776725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
2	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:20763000-20780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel
7	chr12:20765800-20782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:20766600-20780400	Weak transcription	Aorta	Aorta
9	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
10	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
11	chr12:20767600-20781800	Weak transcription	Ovary	ovary
12	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:20767800-20782800	Weak transcription	Fetal Kidney	kidney
14	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
15	chr12:20768600-20782600	Weak transcription	NH-A	brain
16	chr12:20769400-20779400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:20769800-20781200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:20769800-20781200	Weak transcription	Osteobl	bone
19	chr12:20769800-20781800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:20769800-20787200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:20773200-20780600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:20773400-20777800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:20773600-20779800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:20773800-20776400	Strong transcription	Fetal Intestine Large	intestine
25	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
26	chr12:20775400-20782600	Weak transcription	Left Ventricle	heart
27	chr12:20775600-20777400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:20775800-20781400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:20776400-20777400	Weak transcription	Fetal Intestine Large	intestine
30	chr12:20777400-20777800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:20777400-20778000	Strong transcription	Fetal Intestine Large	intestine
32	chr12:20777400-20778000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:20777400-20778200	Enhancers	A549	lung
34	chr12:20777600-20777800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:20777800-20778600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:20777800-20778600	Enhancers	NHDF-Ad	bronchial
37	chr12:20777800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:20778000-20778200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:20778000-20778200	Enhancers	HepG2	liver
40	chr12:20778000-20778400	Weak transcription	Fetal Intestine Large	intestine
41	chr12:20778000-20779400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:20778200-20779800	Weak transcription	A549	lung
43	chr12:20778200-20780200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:20778200-20782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:20778400-20778600	Genic enhancers	Fetal Intestine Large	intestine
46	chr12:20778400-20779600	Weak transcription	HepG2	liver
47	chr12:20778600-20779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:20778600-20782400	Weak transcription	NHDF-Ad	bronchial
49	chr12:20778600-20783800	Enhancers	Fetal Intestine Large	intestine
50	chr12:20779000-20779800	Weak transcription	Fetal Lung	lung

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