Variant report

Variant	esv2599141
Chromosome Location	chr1:70026600-70028360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70028289..70031072-chr1:70031175..70033274,4	K562	blood:
2	chr1:70021698..70024532-chr1:70025358..70028076,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539605104	chr1:70026625-70026626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546694763	chr1:70026641-70026642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74977464	chr1:70026659-70026660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7531804	chr1:70026674-70026675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555329465	chr1:70026683-70026684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574669450	chr1:70026721-70026722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368023998	chr1:70026815-70026816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10889838	chr1:70026816-70026817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7531427	chr1:70026882-70026883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576975139	chr1:70026902-70026903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150763852	chr1:70026962-70026963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189352664	chr1:70026970-70026971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572964518	chr1:70026978-70026979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373203979	chr1:70027041-70027042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181337103	chr1:70027052-70027053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139200775	chr1:70027082-70027083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186345895	chr1:70027092-70027093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564579084	chr1:70027136-70027137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190652389	chr1:70027143-70027144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546782425	chr1:70027176-70027177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566661324	chr1:70027207-70027208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375813068	chr1:70027237-70027238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183198507	chr1:70027274-70027275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112414729	chr1:70027277-70027278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569247274	chr1:70027291-70027292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535512805	chr1:70027351-70027352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191145461	chr1:70027356-70027357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557427846	chr1:70027401-70027402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557223333	chr1:70027420-70027421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570755361	chr1:70027428-70027429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539684777	chr1:70027480-70027481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61782201	chr1:70027504-70027505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573002561	chr1:70027505-70027506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533800601	chr1:70027530-70027531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575378989	chr1:70027535-70027536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541962556	chr1:70027547-70027548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555129393	chr1:70027549-70027550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575199775	chr1:70027551-70027552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543863681	chr1:70027562-70027563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539606726	chr1:70027569-70027570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564842251	chr1:70027570-70027571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533432960	chr1:70027599-70027600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540456460	chr1:70027610-70027611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560332613	chr1:70027611-70027612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529408958	chr1:70027615-70027616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373455326	chr1:70027630-70027631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377095008	chr1:70027667-70027668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201043812	chr1:70027676-70027677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12035669	chr1:70027679-70027680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555709864	chr1:70027682-70027683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70021800-70032600	Weak transcription	K562	blood
2	chr1:70027000-70027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:70027600-70028000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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