Variant report

Variant	esv3372062
Chromosome Location	chr1:73603980-73620807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369116642	chr1:73609207-73609208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563895228	chr1:73609209-73609210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554542346	chr1:73609238-73609239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532864901	chr1:73609255-73609256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546669930	chr1:73609264-73609265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566382861	chr1:73609308-73609309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112809852	chr1:73609350-73609351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548628751	chr1:73609431-73609432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534016160	chr1:73609432-73609433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111540789	chr1:73609434-73609435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71653595	chr1:73609441-73609442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188948993	chr1:73609445-73609446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113736121	chr1:73609471-73609472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12143587	chr1:73609533-73609534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539590788	chr1:73609547-73609548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7415701	chr1:73609566-73609567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553417139	chr1:73609578-73609579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193154075	chr1:73609593-73609594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372257054	chr1:73609628-73609629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561714784	chr1:73609641-73609642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4430278	chr1:73609642-73609643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368398539	chr1:73609683-73609684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563984098	chr1:73609699-73609700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375970968	chr1:73609700-73609701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539987735	chr1:73609723-73609724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560169845	chr1:73609727-73609728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4559447	chr1:73609754-73609755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548977669	chr1:73609769-73609770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374334440	chr1:73609787-73609788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369255802	chr1:73609798-73609799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531279042	chr1:73609820-73609821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551287792	chr1:73609838-73609839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577739600	chr1:73609858-73609859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540003424	chr1:73609886-73609887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368270582	chr1:73609903-73609904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4433342	chr1:73609915-73609916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538620482	chr1:73609991-73609992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558500502	chr1:73610022-73610023	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527806153	chr1:73610025-73610026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs11210143	chr1:73610030-73610031	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566975201	chr1:73610198-73610199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4391625	chr1:73610214-73610215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555342025	chr1:73610227-73610228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369424497	chr1:73610243-73610244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575227281	chr1:73610277-73610278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75853014	chr1:73610286-73610287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185185975	chr1:73610319-73610320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550397507	chr1:73610345-73610346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540444044	chr1:73610369-73610370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560055339	chr1:73610385-73610386	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73609200-73610000	Enhancers	Fetal Heart	heart
2	chr1:73609800-73610200	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:73609800-73610400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:73610000-73610200	Flanking Active TSS	Fetal Heart	heart
5	chr1:73610000-73610400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:73610200-73610400	Enhancers	Fetal Heart	heart
7	chr1:73610400-73610600	Flanking Active TSS	Fetal Heart	heart
8	chr1:73610600-73611000	Enhancers	Fetal Heart	heart

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