Variant report

Variant	nsv946185
Chromosome Location	chr1:120082865-120085054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587749043	chr1:120082891-120082892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181577402	chr1:120082911-120082912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115528753	chr1:120082914-120082915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6667698	chr1:120082941-120082942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587641397	chr1:120082990-120082991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587682264	chr1:120083010-120083011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587774223	chr1:120083030-120083031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372023011	chr1:120083088-120083089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587740029	chr1:120083098-120083099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375296488	chr1:120083248-120083249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587615238	chr1:120083289-120083290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139920237	chr1:120083298-120083299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186075278	chr1:120083302-120083303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79469810	chr1:120083313-120083314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6681580	chr1:120083340-120083341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143778049	chr1:120083365-120083366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587706390	chr1:120083378-120083379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146838788	chr1:120083402-120083403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115075490	chr1:120083458-120083459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74117412	chr1:120083514-120083515	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587616751	chr1:120083570-120083571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587679858	chr1:120083582-120083583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587730330	chr1:120083616-120083617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5012379	chr1:120083624-120083625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190479410	chr1:120083693-120083694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587775291	chr1:120083778-120083779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144637225	chr1:120083784-120083785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587719300	chr1:120083788-120083789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375864362	chr1:120083810-120083811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587774743	chr1:120083850-120083851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2208380	chr1:120083852-120083853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs587718793	chr1:120083947-120083948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2224398	chr1:120084025-120084026	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115840299	chr1:120084047-120084048	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs72999191	chr1:120084102-120084103	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs587605129	chr1:120084115-120084116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs148821061	chr1:120084133-120084134	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs587623353	chr1:120084207-120084208	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs143620870	chr1:120084237-120084238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs180741760	chr1:120084274-120084275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs587671973	chr1:120084300-120084301	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs148054565	chr1:120084339-120084340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs587624879	chr1:120084408-120084409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs587684943	chr1:120084410-120084411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs587766219	chr1:120084414-120084415	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs587649994	chr1:120084417-120084418	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs10802110	chr1:120084433-120084434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185900968	chr1:120084462-120084463	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs587615915	chr1:120084467-120084468	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs587689360	chr1:120084488-120084489	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Breast cancer	21760589	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120074800-120083400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:120076600-120083400	Weak transcription	Ovary	ovary
3	chr1:120080600-120085400	Enhancers	Liver	Liver
4	chr1:120082400-120084000	Enhancers	Placenta	Placenta
5	chr1:120082800-120096000	Weak transcription	Lung	lung
6	chr1:120083200-120083600	Enhancers	Adipose Nuclei	Adipose
7	chr1:120083200-120087000	Enhancers	Pancreas	Pancrea
8	chr1:120083400-120084000	Enhancers	Ovary	ovary
9	chr1:120083400-120084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:120083800-120084000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:120084000-120084200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:120084000-120084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:120084000-120084800	Weak transcription	Placenta	Placenta
14	chr1:120084000-120084800	Weak transcription	Ovary	ovary
15	chr1:120084000-120084800	Bivalent Enhancer	NHEK	skin
16	chr1:120084000-120085400	Enhancers	HMEC	breast
17	chr1:120084200-120084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:120084200-120085000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:120084200-120085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:120084200-120095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:120084400-120085000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:120084600-120085800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:120084800-120085600	Enhancers	Ovary	ovary
24	chr1:120084800-120085800	Enhancers	NHEK	skin
25	chr1:120084800-120087200	Enhancers	Placenta	Placenta
26	chr1:120085000-120085200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links