Variant report

Variant	esv3321886
Chromosome Location	chr1:102558514-102560162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141656879	chr1:102558522-102558523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548194249	chr1:102558527-102558528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577330747	chr1:102558561-102558562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566636890	chr1:102558586-102558587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376172327	chr1:102558626-102558627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544560219	chr1:102558650-102558651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527544161	chr1:102558657-102558658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113927684	chr1:102558664-102558665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552207770	chr1:102558691-102558692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56363189	chr1:102558692-102558693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538049455	chr1:102558709-102558710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376350373	chr1:102558738-102558739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183925668	chr1:102558753-102558754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116640575	chr1:102558787-102558788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535460917	chr1:102558829-102558830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187629859	chr1:102558858-102558859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201376042	chr1:102558893-102558894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541952594	chr1:102558895-102558896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56389309	chr1:102558967-102558968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532384605	chr1:102558971-102558972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552222744	chr1:102558991-102558992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572364583	chr1:102559007-102559008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111897100	chr1:102559013-102559014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566018514	chr1:102559053-102559054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560353178	chr1:102559061-102559062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528620595	chr1:102559068-102559069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547264668	chr1:102559091-102559092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567499127	chr1:102559112-102559113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374909334	chr1:102559121-102559122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369606547	chr1:102559128-102559129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371924026	chr1:102559138-102559139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11810842	chr1:102559142-102559143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28544015	chr1:102559149-102559150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375297313	chr1:102559153-102559154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368684323	chr1:102559156-102559157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372810528	chr1:102559170-102559171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371311234	chr1:102559195-102559196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558175696	chr1:102559197-102559198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375787718	chr1:102559201-102559202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111214269	chr1:102559204-102559205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377395377	chr1:102559207-102559208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369092264	chr1:102559211-102559212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373329264	chr1:102559226-102559227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369587462	chr1:102559227-102559228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373054664	chr1:102559254-102559255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376447190	chr1:102559257-102559258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376955619	chr1:102559280-102559281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35745762	chr1:102559289-102559290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370903599	chr1:102559290-102559291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569642731	chr1:102559291-102559292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102556000-102561800	Weak transcription	HMEC	breast
2	chr1:102556200-102562400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:102558000-102558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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