Variant report

Variant	esv3382274
Chromosome Location	chr1:72680664-72685162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532194826	chr1:72681635-72681636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546120608	chr1:72681663-72681664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559222313	chr1:72681680-72681681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12061293	chr1:72681692-72681693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562007202	chr1:72681697-72681698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1675354	chr1:72681731-72681732	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149935893	chr1:72681734-72681735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs1675355	chr1:72681780-72681781	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550387875	chr1:72681811-72681812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9699942	chr1:72681835-72681836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547579694	chr1:72681840-72681841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182363817	chr1:72681850-72681851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559295922	chr1:72681862-72681863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540522885	chr1:72681878-72681879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188630464	chr1:72681895-72681896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199701310	chr1:72682055-72682056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370971599	chr1:72682067-72682068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66510262	chr1:72682068-72682069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373553163	chr1:72682069-72682070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200720684	chr1:72682081-72682082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56819538	chr1:72682083-72682084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12062473	chr1:72682085-72682086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193259960	chr1:72682087-72682088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56767155	chr1:72682098-72682099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12062477	chr1:72682106-72682107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12062479	chr1:72682113-72682114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543932762	chr1:72682114-72682115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12062480	chr1:72682115-72682116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557167667	chr1:72682117-72682118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577016730	chr1:72682140-72682141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144580346	chr1:72682146-72682147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544825435	chr1:72682189-72682190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115086733	chr1:72682413-72682414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183238862	chr1:72682444-72682445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541447526	chr1:72682459-72682460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561375753	chr1:72682488-72682489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530414290	chr1:72682501-72682502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372589945	chr1:72682507-72682508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188645516	chr1:72682514-72682515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570404771	chr1:72682574-72682575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71713474	chr1:72682607-72682608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184351803	chr1:72682610-72682611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147873901	chr1:72682619-72682620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12725081	chr1:72682718-72682719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533225485	chr1:72682731-72682732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28544516	chr1:72682747-72682748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192257322	chr1:72682781-72682782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183916285	chr1:72682820-72682821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145638995	chr1:72682853-72682854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376371019	chr1:72682863-72682864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	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	chr1:72681600-72681800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72681800-72691600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72684400-72684800	Enhancers	Osteobl	bone
4	chr1:72684600-72685400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:72684800-72685600	Enhancers	Rectal Smooth Muscle	rectum

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