Variant report

Variant	esv3366799
Chromosome Location	chr5:12530001-12551703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12542323..12544151-chr5:12547320..12550095,2	K562	blood:
2	chr5:12546310..12548435-chr5:12549138..12551097,2	K562	blood:
3	chr5:12542323..12544151-chr5:12547320..12550095,2	K562	blood:
4	chr5:12537002..12539656-chr5:12586201..12588814,2	K562	blood:
5	chr5:12546310..12548435-chr5:12549138..12551097,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77430024	chr5:12532306-12532307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538371770	chr5:12532321-12532322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531319497	chr5:12532326-12532327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs32359	chr5:12532327-12532328	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs32358	chr5:12532357-12532358	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535201584	chr5:12532390-12532391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368728838	chr5:12532395-12532396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568310705	chr5:12532400-12532401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs535740375	chr5:12532420-12532421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76741927	chr5:12532444-12532445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554302901	chr5:12532464-12532465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115836516	chr5:12532507-12532508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114086548	chr5:12532528-12532529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558011229	chr5:12532562-12532563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557328706	chr5:12532581-12532582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576365900	chr5:12532631-12532632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs537421759	chr5:12532632-12532633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs377105217	chr5:12532650-12532651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149399624	chr5:12532676-12532677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574036124	chr5:12532716-12532717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541154643	chr5:12532726-12532727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559932336	chr5:12532737-12532738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs28880571	chr5:12532741-12532742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546054564	chr5:12532759-12532760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564337693	chr5:12532776-12532777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556911104	chr5:12532778-12532779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556918143	chr5:12535411-12535412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575209753	chr5:12535415-12535416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542697499	chr5:12535461-12535462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79947669	chr5:12535468-12535469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34968071	chr5:12535488-12535489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186040319	chr5:12535536-12535537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529847074	chr5:12535544-12535545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190403497	chr5:12535553-12535554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532880886	chr5:12535679-12535680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115886156	chr5:12535685-12535686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386685574	chr5:12535741-12535742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558086671	chr5:12535742-12535743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74410669	chr5:12535753-12535754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78394819	chr5:12535754-12535755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555067762	chr5:12535800-12535801	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12532200-12532800	ZNF genes & repeats	Pancreas	Pancrea
2	chr5:12535400-12535600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:12535600-12535800	Enhancers	H9 Cell Line	embryonic stem cell

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