Variant report

Variant	esv3366854
Chromosome Location	chr1:97760364-97763662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530823868	chr1:97760364-97760365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550506275	chr1:97760404-97760405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138662889	chr1:97760415-97760416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532900622	chr1:97760459-97760460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186060234	chr1:97760486-97760487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4950026	chr1:97760661-97760662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572055590	chr1:97760717-97760718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540614002	chr1:97760830-97760831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371670271	chr1:97760868-97760869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374547953	chr1:97760913-97760914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112184719	chr1:97760915-97760916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386367770	chr1:97760916-97760917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397829376	chr1:97760917-97760918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548558538	chr1:97760988-97760989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36017006	chr1:97760997-97760998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398053261	chr1:97761007-97761008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74454439	chr1:97761008-97761009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149322780	chr1:97761018-97761019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538482048	chr1:97761047-97761048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575401393	chr1:97761062-97761063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144569199	chr1:97761063-97761064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148444540	chr1:97761065-97761066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534056027	chr1:97761090-97761091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1879373	chr1:97761119-97761120	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574164762	chr1:97761120-97761121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577763540	chr1:97761124-97761125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112478080	chr1:97761132-97761133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575620429	chr1:97761140-97761141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540458274	chr1:97761148-97761149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180770427	chr1:97761178-97761179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75094882	chr1:97761252-97761253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564151111	chr1:97761268-97761269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142043381	chr1:97761291-97761292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369787384	chr1:97761312-97761313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540040317	chr1:97761314-97761315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186274572	chr1:97761322-97761323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528950526	chr1:97761370-97761371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548570262	chr1:97761376-97761377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549487638	chr1:97761377-97761378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568471134	chr1:97761378-97761379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530097581	chr1:97761419-97761420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146324245	chr1:97761425-97761426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190744980	chr1:97761509-97761510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560271867	chr1:97761520-97761521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201275453	chr1:97761575-97761576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531924055	chr1:97761576-97761577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114322239	chr1:97761599-97761600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112823357	chr1:97761617-97761618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183035493	chr1:97761627-97761628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6700920	chr1:97761698-97761699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97720600-97772000	Weak transcription	Ovary	ovary
2	chr1:97724000-97773200	Weak transcription	Lung	lung
3	chr1:97730400-97769800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:97731400-97761200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:97733600-97769800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:97736800-97771600	Weak transcription	Left Ventricle	heart
7	chr1:97737800-97771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:97738800-97766200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:97743800-97769800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:97745000-97773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:97745200-97771800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:97745200-97773400	Weak transcription	NHDF-Ad	bronchial
13	chr1:97745800-97769800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:97746000-97770600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:97750600-97770000	Weak transcription	HSMM	muscle
16	chr1:97750800-97770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:97753400-97773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:97754000-97762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:97754200-97773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:97756000-97772400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:97756800-97773200	Weak transcription	Small Intestine	intestine
22	chr1:97757600-97762000	Strong transcription	Liver	Liver
23	chr1:97757800-97763000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:97757800-97773200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:97757800-97773800	Weak transcription	Osteobl	bone
26	chr1:97758000-97761600	Strong transcription	Primary T cells from cord blood	blood
27	chr1:97758000-97770400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:97758200-97771600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:97758400-97760400	Strong transcription	Dnd41	blood
30	chr1:97758400-97761800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:97758400-97765000	Weak transcription	Fetal Brain Male	brain
32	chr1:97758800-97761600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:97759200-97771600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:97759200-97772200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:97759600-97761000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:97759600-97771400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:97759800-97776000	Weak transcription	Pancreas	Pancrea
38	chr1:97760000-97760800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:97760000-97761400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:97760000-97770600	Weak transcription	Aorta	Aorta
41	chr1:97760000-97772600	Weak transcription	Thymus	Thymus
42	chr1:97760200-97772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:97760400-97769800	Weak transcription	Dnd41	blood
44	chr1:97760800-97770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:97761000-97769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:97761200-97761600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr1:97761400-97770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:97761600-97769600	Weak transcription	Primary T cells from cord blood	blood
49	chr1:97761600-97769600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:97761600-97769800	Weak transcription	Primary T cells fromperipheralblood	blood

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