Variant report

Variant	esv3453306
Chromosome Location	chr1:67321646-67324305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113911549	chr1:67321682-67321683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534005541	chr1:67321698-67321699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71639457	chr1:67321703-67321704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71639458	chr1:67321705-67321706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557191389	chr1:67321761-67321762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61779974	chr1:67321770-67321771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111444989	chr1:67321776-67321777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115103884	chr1:67321823-67321824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184627868	chr1:67321827-67321828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539641130	chr1:67321832-67321833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556940914	chr1:67321919-67321920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55768158	chr1:67321922-67321923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56008069	chr1:67321928-67321929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7552362	chr1:67321934-67321935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544228456	chr1:67321937-67321938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557433609	chr1:67321960-67321961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533761606	chr1:67321997-67321998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577688621	chr1:67322049-67322050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528512685	chr1:67322073-67322074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112802209	chr1:67322110-67322111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529094529	chr1:67322142-67322143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75485105	chr1:67322174-67322175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80005937	chr1:67322175-67322176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539875320	chr1:67322179-67322180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146391111	chr1:67322180-67322181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573643829	chr1:67322204-67322205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544524174	chr1:67322223-67322224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562830062	chr1:67322304-67322305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531494904	chr1:67322310-67322311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551770603	chr1:67322335-67322336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542234151	chr1:67322450-67322451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571525640	chr1:67322498-67322499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527790422	chr1:67322505-67322506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547949944	chr1:67322506-67322507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536798557	chr1:67322621-67322622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567756863	chr1:67322637-67322638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536862336	chr1:67322673-67322674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556779459	chr1:67322687-67322688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139784276	chr1:67322688-67322689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569102	chr1:67322738-67322739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111517731	chr1:67322739-67322740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569101	chr1:67322740-67322741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs551342582	chr1:67322760-67322761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557737363	chr1:67322804-67322805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113343864	chr1:67322841-67322842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577527422	chr1:67322851-67322852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539833798	chr1:67322912-67322913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553499130	chr1:67322947-67322948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142050130	chr1:67322980-67322981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533206277	chr1:67323013-67323014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67276800-67336000	Weak transcription	Aorta	Aorta
2	chr1:67281600-67335800	Weak transcription	Ovary	ovary
3	chr1:67319400-67335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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