Variant report

Variant	esv3407712
Chromosome Location	chr1:76427464-76429537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546416355	chr1:76427502-76427503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564419311	chr1:76427503-76427504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186458928	chr1:76427531-76427532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531858862	chr1:76427602-76427603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1251579	chr1:76427617-76427618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs562079238	chr1:76427643-76427644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529988000	chr1:76427670-76427671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548504489	chr1:76427708-76427709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566814036	chr1:76427748-76427749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527492065	chr1:76427753-76427754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552377223	chr1:76427801-76427802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369597424	chr1:76427921-76427922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188531650	chr1:76427931-76427932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373323999	chr1:76428098-76428099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537964347	chr1:76428152-76428153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180903637	chr1:76428209-76428210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531308148	chr1:76428240-76428241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66847810	chr1:76428277-76428278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11161945	chr1:76428279-76428280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77240992	chr1:76428282-76428283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76939166	chr1:76428290-76428291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199667838	chr1:76428292-76428293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59556446	chr1:76428294-76428295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76408846	chr1:76428300-76428301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs66523658	chr1:76428303-76428304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544074331	chr1:76428304-76428305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374368805	chr1:76428307-76428308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59521836	chr1:76428309-76428310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61258802	chr1:76428310-76428311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57619135	chr1:76428312-76428313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143808014	chr1:76428314-76428315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60723878	chr1:76428316-76428317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67738604	chr1:76428317-76428318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59330025	chr1:76428321-76428322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72222266	chr1:76428328-76428329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185120499	chr1:76428347-76428348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71502714	chr1:76428352-76428353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71502715	chr1:76428354-76428355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59119116	chr1:76428366-76428367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59817753	chr1:76428368-76428369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55722035	chr1:76428378-76428379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371761379	chr1:76428380-76428381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542960535	chr1:76428392-76428393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58852405	chr1:76428396-76428397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557982513	chr1:76428404-76428405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57553203	chr1:76428412-76428413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60222121	chr1:76428414-76428415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58143292	chr1:76428415-76428416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367899004	chr1:76428416-76428417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397944042	chr1:76428417-76428418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Melanoma	17363583	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76421000-76430000	Weak transcription	HMEC	breast
2	chr1:76427800-76428200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:76427800-76429600	Weak transcription	A549	lung
4	chr1:76428000-76428200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:76428200-76429600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:76429000-76429800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:76429200-76429800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:76429400-76429600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:76429400-76429800	Enhancers	Osteobl	bone
10	chr1:76429400-76430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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