Variant report

Variant	esv3321911
Chromosome Location	chr1:80149214-80150362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559365892	chr1:80149225-80149226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202241771	chr1:80149283-80149284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533362456	chr1:80149303-80149304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10680883	chr1:80149307-80149308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34445489	chr1:80149308-80149309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34348738	chr1:80149309-80149310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187620726	chr1:80149382-80149383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145859882	chr1:80149384-80149385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530599196	chr1:80149401-80149402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372273067	chr1:80149461-80149462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564402472	chr1:80149473-80149474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533369588	chr1:80149490-80149491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374809024	chr1:80149536-80149537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71763662	chr1:80149537-80149538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377409123	chr1:80149549-80149550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546742413	chr1:80149552-80149553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200872480	chr1:80149557-80149558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370161156	chr1:80149560-80149561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7534280	chr1:80149561-80149562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111556369	chr1:80149563-80149564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11807179	chr1:80149565-80149566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559440785	chr1:80149573-80149574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10623921	chr1:80149575-80149576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567363139	chr1:80149594-80149595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534757263	chr1:80149615-80149616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140201413	chr1:80149636-80149637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12754713	chr1:80149701-80149702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192602271	chr1:80149739-80149740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558138584	chr1:80149777-80149778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576701160	chr1:80149784-80149785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5010880	chr1:80149805-80149806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs555578174	chr1:80149830-80149831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573793513	chr1:80149839-80149840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79930029	chr1:80149868-80149869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559805195	chr1:80149901-80149902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12075968	chr1:80149902-80149903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374148609	chr1:80150004-80150005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567994141	chr1:80150037-80150038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1479739	chr1:80150038-80150039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530875033	chr1:80150053-80150054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549195391	chr1:80150056-80150057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567424652	chr1:80150120-80150121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183566984	chr1:80150149-80150150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12076080	chr1:80150181-80150182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs10874059	chr1:80150246-80150247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6691816	chr1:80150268-80150269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188289499	chr1:80150324-80150325	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
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
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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80147600-80158600	Weak transcription	Gastric	stomach

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