Variant report

Variant	esv3339416
Chromosome Location	chr1:90696164-90701362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145219759	chr1:90696218-90696219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546845139	chr1:90696242-90696243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80181389	chr1:90696247-90696248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568549991	chr1:90696251-90696252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374136341	chr1:90696279-90696280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112703685	chr1:90696299-90696300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535510593	chr1:90696318-90696319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12062997	chr1:90696332-90696333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549860279	chr1:90696340-90696341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568894970	chr1:90696394-90696395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188798077	chr1:90696396-90696397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182419535	chr1:90696489-90696490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115561022	chr1:90696512-90696513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546675720	chr1:90696518-90696519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559214756	chr1:90696550-90696551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373328384	chr1:90696565-90696566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114506363	chr1:90696608-90696609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552843503	chr1:90696640-90696641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377471300	chr1:90696687-90696688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375501651	chr1:90696688-90696689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146693230	chr1:90696698-90696699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112048153	chr1:90696753-90696754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75612612	chr1:90696764-90696765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575291583	chr1:90696782-90696783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545789513	chr1:90696784-90696785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35228732	chr1:90696790-90696791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564818361	chr1:90696865-90696866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139240956	chr1:90696878-90696879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186983450	chr1:90696939-90696940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562140662	chr1:90696942-90696943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535039126	chr1:90697130-90697131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529380225	chr1:90697132-90697133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190609644	chr1:90697134-90697135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181025591	chr1:90697175-90697176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185234992	chr1:90697195-90697196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551443647	chr1:90697220-90697221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570726195	chr1:90697266-90697267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369985864	chr1:90697378-90697379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534607475	chr1:90697408-90697409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553169951	chr1:90697424-90697425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144048234	chr1:90697456-90697457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577190075	chr1:90697493-90697494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4514225	chr1:90697502-90697503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28835405	chr1:90697552-90697553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4514226	chr1:90697564-90697565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190340484	chr1:90697588-90697589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557423043	chr1:90697635-90697636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573528455	chr1:90697657-90697658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182554110	chr1:90697659-90697660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79177550	chr1:90697667-90697668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90692000-90706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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