Variant report

Variant	esv3320331
Chromosome Location	chr1:84125858-84127369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185692826	chr1:84125954-84125955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532334915	chr1:84125957-84125958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74096423	chr1:84125971-84125972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77258906	chr1:84126004-84126005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10782815	chr1:84126005-84126006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs137948492	chr1:84126008-84126009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547846798	chr1:84126061-84126062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12401547	chr1:84126063-84126064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567767708	chr1:84126119-84126120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72948348	chr1:84126141-84126142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546922636	chr1:84126145-84126146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567131258	chr1:84126159-84126160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538998143	chr1:84126218-84126219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559217325	chr1:84126223-84126224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141697903	chr1:84126267-84126268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190159754	chr1:84126287-84126288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559313821	chr1:84126305-84126306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4907175	chr1:84126330-84126331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150505825	chr1:84126423-84126424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540401229	chr1:84126459-84126460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560125135	chr1:84126516-84126517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540880990	chr1:84126536-84126537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576985543	chr1:84126538-84126539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545753590	chr1:84126562-84126563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562772390	chr1:84126568-84126569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112870306	chr1:84126573-84126574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4276935	chr1:84126644-84126645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181489394	chr1:84126662-84126663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530164371	chr1:84126663-84126664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7417359	chr1:84126705-84126706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11587929	chr1:84126728-84126729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184564399	chr1:84126732-84126733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139485397	chr1:84126815-84126816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188490641	chr1:84126835-84126836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181427007	chr1:84126866-84126867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554171970	chr1:84127025-84127026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574182899	chr1:84127055-84127056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533621240	chr1:84127058-84127059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67006112	chr1:84127064-84127065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200468095	chr1:84127065-84127066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397738128	chr1:84127067-84127068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553855941	chr1:84127089-84127090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576919880	chr1:84127090-84127091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545985686	chr1:84127091-84127092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186035370	chr1:84127118-84127119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149851588	chr1:84127127-84127128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544593446	chr1:84127188-84127189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114262365	chr1:84127191-84127192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61790670	chr1:84127219-84127220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532089801	chr1:84127234-84127235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84122800-84131800	Weak transcription	Pancreas	Pancrea
2	chr1:84126000-84126400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:84126400-84132000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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