Variant report

Variant	esv3524497
Chromosome Location	chr1:84882314-84885812
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	chr1:84884512..84886261-chr1:84889653..84891562,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562969818	chr1:84882356-84882357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543020023	chr1:84882459-84882460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141898190	chr1:84882468-84882469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150613079	chr1:84882483-84882484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201308093	chr1:84882494-84882495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199989387	chr1:84882495-84882496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76829286	chr1:84882505-84882506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191287739	chr1:84882527-84882528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7549128	chr1:84882601-84882602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531055847	chr1:84882682-84882683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550251974	chr1:84882729-84882730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71652675	chr1:84882731-84882732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560658710	chr1:84882738-84882739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7541611	chr1:84882782-84882783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533522886	chr1:84882843-84882844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6576701	chr1:84882950-84882951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538906294	chr1:84882974-84882975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12128509	chr1:84882979-84882980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569072278	chr1:84883001-84883002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139722800	chr1:84883013-84883014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371471423	chr1:84883087-84883088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566035456	chr1:84883106-84883107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557452805	chr1:84883113-84883114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574083046	chr1:84883123-84883124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536225483	chr1:84883130-84883131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573522850	chr1:84883157-84883158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149531077	chr1:84883275-84883276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146040788	chr1:84883288-84883289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545293443	chr1:84883297-84883298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565276392	chr1:84883415-84883416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139979943	chr1:84883419-84883420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544404908	chr1:84883436-84883437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560790499	chr1:84883489-84883490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369231551	chr1:84883506-84883507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2185486	chr1:84883529-84883530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76043462	chr1:84883551-84883552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560069868	chr1:84883581-84883582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79082527	chr1:84883622-84883623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183143343	chr1:84883635-84883636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79628790	chr1:84883670-84883671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143326863	chr1:84883671-84883672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370145770	chr1:84883685-84883686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531490353	chr1:84883706-84883707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2389723	chr1:84883727-84883728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567619853	chr1:84883743-84883744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146728070	chr1:84883771-84883772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370906557	chr1:84883787-84883788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566847326	chr1:84883798-84883799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538656123	chr1:84883817-84883818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367856163	chr1:84883826-84883827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84878600-84883200	Weak transcription	Psoas Muscle	Psoas
2	chr1:84881600-84884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:84881600-84893000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:84884200-84884400	ZNF genes & repeats	Pancreas	Pancrea
5	chr1:84884400-84884800	Weak transcription	Pancreas	Pancrea

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