Variant report

Variant	esv3334806
Chromosome Location	chr13:62342351-62345549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376364893	chr13:62342358-62342359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370796511	chr13:62342377-62342378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201189950	chr13:62342380-62342381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544219121	chr13:62342424-62342425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373098919	chr13:62342494-62342495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377359524	chr13:62342503-62342504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368342287	chr13:62342603-62342604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148928451	chr13:62342657-62342658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9539298	chr13:62342659-62342660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548487813	chr13:62342674-62342675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567100474	chr13:62342683-62342684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564464293	chr13:62342684-62342685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533475914	chr13:62342755-62342756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527955970	chr13:62342756-62342757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538729117	chr13:62342763-62342764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552867048	chr13:62342773-62342774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200899239	chr13:62342786-62342787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143657767	chr13:62342856-62342857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9539299	chr13:62342866-62342867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201214545	chr13:62342903-62342904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556198472	chr13:62342934-62342935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118017568	chr13:62342982-62342983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148262364	chr13:62342990-62342991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111293531	chr13:62342992-62342993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553685107	chr13:62343004-62343005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202090794	chr13:62343018-62343019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529367153	chr13:62343023-62343024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549460523	chr13:62343033-62343034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572235702	chr13:62343036-62343037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368959141	chr13:62343112-62343113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545765766	chr13:62343132-62343133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202123027	chr13:62343154-62343155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558001829	chr13:62343159-62343160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575933028	chr13:62343209-62343210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544156432	chr13:62343320-62343321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562580770	chr13:62343338-62343339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530131209	chr13:62343344-62343345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187758884	chr13:62343347-62343348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542337014	chr13:62343376-62343377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4886372	chr13:62343411-62343412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375243348	chr13:62343435-62343436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552519418	chr13:62343504-62343505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571111154	chr13:62343530-62343531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191135732	chr13:62343665-62343666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532054948	chr13:62343679-62343680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531752173	chr13:62343681-62343682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142908960	chr13:62343687-62343688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568111593	chr13:62343700-62343701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535182294	chr13:62343709-62343710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146976080	chr13:62343767-62343768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62339600-62344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:62345000-62345200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:62345000-62345200	Enhancers	Brain Hippocampus Middle	brain
4	chr13:62345200-62348800	Weak transcription	Brain Hippocampus Middle	brain

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