Variant report

Variant	esv3516017
Chromosome Location	chr1:102055173-102057280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570506243	chr1:102055220-102055221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576811013	chr1:102055295-102055296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376881153	chr1:102055315-102055316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544148285	chr1:102055337-102055338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562459360	chr1:102055374-102055375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533543964	chr1:102055376-102055377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80261005	chr1:102055392-102055393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76141314	chr1:102055393-102055394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201242531	chr1:102055394-102055395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548286195	chr1:102055456-102055457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539961076	chr1:102055466-102055467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145749705	chr1:102055513-102055514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11164233	chr1:102055549-102055550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552553131	chr1:102055558-102055559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553878275	chr1:102055585-102055586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184138304	chr1:102055597-102055598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113191180	chr1:102055606-102055607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72725695	chr1:102055607-102055608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535579662	chr1:102055609-102055610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553831089	chr1:102055617-102055618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148967299	chr1:102055661-102055662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368753221	chr1:102055680-102055681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544492786	chr1:102055709-102055710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370693467	chr1:102055796-102055797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368395209	chr1:102055803-102055804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562595667	chr1:102055804-102055805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539642812	chr1:102055825-102055826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372356564	chr1:102055846-102055847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150973058	chr1:102055868-102055869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543886895	chr1:102055894-102055895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7414386	chr1:102055929-102055930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562533276	chr1:102055931-102055932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574470693	chr1:102055985-102055986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141013386	chr1:102056059-102056060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374600566	chr1:102056066-102056067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188397807	chr1:102056128-102056129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527489250	chr1:102056129-102056130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181567254	chr1:102056130-102056131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201626705	chr1:102056134-102056135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77561868	chr1:102056137-102056138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551219968	chr1:102056173-102056174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151098913	chr1:102056174-102056175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564236876	chr1:102056179-102056180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531602920	chr1:102056201-102056202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549782978	chr1:102056207-102056208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374392621	chr1:102056210-102056211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568148507	chr1:102056257-102056258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535447538	chr1:102056303-102056304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547531261	chr1:102056312-102056313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199946366	chr1:102056386-102056387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102053400-102055200	Weak transcription	Fetal Kidney	kidney
2	chr1:102053800-102058400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:102055200-102055400	Enhancers	Fetal Kidney	kidney

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