Variant report

Variant	esv3350969
Chromosome Location	chr13:65462000-65492446
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	chr13:65490694..65491214-chr8:101576105..101576870,2	K562	blood:

Extended variants
information (count: 290 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187698282	chr13:65470047-65470048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148989728	chr13:65470055-65470056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144415434	chr13:65470062-65470063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77376060	chr13:65470087-65470088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552200453	chr13:65470089-65470090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527855560	chr13:65470127-65470128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568963760	chr13:65470155-65470156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537961478	chr13:65470164-65470165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554833044	chr13:65470183-65470184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575001213	chr13:65470238-65470239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558601644	chr13:65470256-65470257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113084831	chr13:65470257-65470258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371685037	chr13:65470268-65470269	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191438084	chr13:65470313-65470314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568929849	chr13:65470397-65470398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140123813	chr13:65474228-65474229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143728327	chr13:65474249-65474250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202106060	chr13:65474263-65474264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557820253	chr13:65474274-65474275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370260642	chr13:65474285-65474286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145754818	chr13:65474287-65474288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557167652	chr13:65474370-65474371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569744215	chr13:65474396-65474397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367989917	chr13:65474398-65474399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530052614	chr13:65482812-65482813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183147019	chr13:65482877-65482878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9571299	chr13:65482878-65482879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560689227	chr13:65482907-65482908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539220736	chr13:65482913-65482914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142276764	chr13:65482916-65482917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374402048	chr13:65482962-65482963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528100707	chr13:65482978-65482979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546334267	chr13:65482984-65482985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571364416	chr13:65483001-65483002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569517276	chr13:65483013-65483014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538182807	chr13:65483027-65483028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555322550	chr13:65483049-65483050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573643863	chr13:65483072-65483073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536260392	chr13:65483129-65483130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7996989	chr13:65483145-65483146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539441558	chr13:65483166-65483167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572896657	chr13:65483198-65483199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149734181	chr13:65483238-65483239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145585569	chr13:65483273-65483274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575420177	chr13:65483299-65483300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115101127	chr13:65483440-65483441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538434928	chr13:65483442-65483443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560859645	chr13:65483445-65483446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529989900	chr13:65483451-65483452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148875085	chr13:65483465-65483466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65470000-65470400	Active TSS	Gastric	stomach
2	chr13:65474200-65474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:65482800-65483800	Enhancers	HUVEC	blood vessel
4	chr13:65483000-65483400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:65483000-65483400	Enhancers	HMEC	breast
6	chr13:65483000-65483600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:65483400-65484400	Weak transcription	HMEC	breast
8	chr13:65483400-65485600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:65483600-65485600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:65483800-65485600	Weak transcription	HUVEC	blood vessel
11	chr13:65484400-65485000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:65484400-65487000	Enhancers	HMEC	breast
13	chr13:65485000-65485400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:65485400-65486200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:65485600-65485800	Enhancers	A549	lung
16	chr13:65485600-65486200	Enhancers	NHEK	skin
17	chr13:65485600-65487000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:65485600-65487000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:65485600-65487000	Enhancers	HUVEC	blood vessel
20	chr13:65485600-65487200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:65485600-65487200	Enhancers	NH-A	brain
22	chr13:65485800-65486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:65485800-65486000	Flanking Active TSS	A549	lung
24	chr13:65486000-65486400	Active TSS	A549	lung
25	chr13:65486200-65489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:65486400-65486800	Enhancers	A549	lung
27	chr13:65486600-65486800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:65486800-65487000	Active TSS	A549	lung
29	chr13:65487000-65487600	Weak transcription	HUVEC	blood vessel
30	chr13:65487600-65487800	ZNF genes & repeats	HUVEC	blood vessel
31	chr13:65487800-65488000	Weak transcription	HUVEC	blood vessel

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