Variant report

Variant	nsv947301
Chromosome Location	chr1:103609727-103612757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577480675	chr1:103609733-103609734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7536894	chr1:103609815-103609816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs558542097	chr1:103609829-103609830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555494284	chr1:103609835-103609836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138514525	chr1:103609862-103609863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571478388	chr1:103609901-103609902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184119200	chr1:103609909-103609910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556502446	chr1:103609911-103609912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188076796	chr1:103609912-103609913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542303608	chr1:103609915-103609916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186125723	chr1:103609939-103609940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572355348	chr1:103609957-103609958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545801032	chr1:103609960-103609961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564469424	chr1:103609999-103610000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531732179	chr1:103610029-103610030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192335785	chr1:103610038-103610039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561069849	chr1:103610055-103610056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149142302	chr1:103610077-103610078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528051609	chr1:103610114-103610115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529958667	chr1:103610126-103610127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540242614	chr1:103610149-103610150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181486711	chr1:103610279-103610280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143222990	chr1:103610297-103610298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148293228	chr1:103610321-103610322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551901632	chr1:103610346-103610347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141485236	chr1:103610487-103610488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1337197	chr1:103610494-103610495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34490788	chr1:103610552-103610553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567811453	chr1:103610566-103610567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530224069	chr1:103610571-103610572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550751975	chr1:103610572-103610573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12063514	chr1:103610579-103610580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572418788	chr1:103610580-103610581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186950591	chr1:103610659-103610660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11588054	chr1:103610705-103610706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576415899	chr1:103610727-103610728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532396899	chr1:103610737-103610738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11588072	chr1:103610780-103610781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146513231	chr1:103610865-103610866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562258886	chr1:103610883-103610884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1337198	chr1:103610902-103610903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12094397	chr1:103610924-103610925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191745806	chr1:103610940-103610941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182618035	chr1:103610944-103610945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552473198	chr1:103610958-103610959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11164699	chr1:103610991-103610992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs61815024	chr1:103611038-103611039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146329484	chr1:103611062-103611063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373441833	chr1:103611100-103611101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79032750	chr1:103611144-103611145	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103596000-103611000	Weak transcription	HSMM	muscle
2	chr1:103605600-103610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103610200-103612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:103610600-103612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103611000-103613200	Enhancers	HSMM	muscle
6	chr1:103611200-103612400	Enhancers	Dnd41	blood

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