Variant report

Variant	esv1844798
Chromosome Location	chr1:102381127-102384659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558434373	chr1:102381181-102381182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1891123	chr1:102381182-102381183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537672988	chr1:102381188-102381189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112022896	chr1:102381249-102381250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376855164	chr1:102381252-102381253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556616256	chr1:102381260-102381261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17125733	chr1:102381288-102381289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189490768	chr1:102381290-102381291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181807642	chr1:102381312-102381313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572374712	chr1:102381314-102381315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34792844	chr1:102381334-102381335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6577283	chr1:102381372-102381373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7521861	chr1:102381433-102381434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs527313260	chr1:102381446-102381447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145230525	chr1:102381467-102381468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370664251	chr1:102381485-102381486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576778514	chr1:102381496-102381497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7543735	chr1:102381521-102381522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs186156023	chr1:102381566-102381567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149171445	chr1:102381576-102381577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566490671	chr1:102381591-102381592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527318943	chr1:102381593-102381594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17125734	chr1:102381594-102381595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190677762	chr1:102381617-102381618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182763563	chr1:102381700-102381701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556092855	chr1:102381721-102381722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568168869	chr1:102381736-102381737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186506620	chr1:102381787-102381788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535573577	chr1:102381790-102381791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553712652	chr1:102381795-102381796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572089875	chr1:102381800-102381801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12117344	chr1:102381855-102381856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2031771	chr1:102381954-102381955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199911334	chr1:102381955-102381956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142104696	chr1:102381957-102381958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386367847	chr1:102381965-102381966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57463919	chr1:102381966-102381967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200102768	chr1:102381967-102381968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201371688	chr1:102381968-102381969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201830112	chr1:102381984-102381985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200026461	chr1:102381985-102381986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200981254	chr1:102381986-102381987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576675642	chr1:102382053-102382054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543951150	chr1:102382113-102382114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74107147	chr1:102382157-102382158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182887447	chr1:102382168-102382169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541931653	chr1:102382211-102382212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1981275	chr1:102382235-102382236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187233081	chr1:102382349-102382350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113497929	chr1:102382403-102382404	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102379200-102382000	Enhancers	Fetal Heart	heart
2	chr1:102380200-102382000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:102380600-102385600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:102381400-102382000	Enhancers	Brain Germinal Matrix	brain
5	chr1:102384000-102384400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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