Variant report

Variant	esv3339719
Chromosome Location	chr13:86318251-86320299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs613203	chr13:86318262-86318263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9547357	chr13:86318304-86318305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186880151	chr13:86318375-86318376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191355009	chr13:86318405-86318406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535470295	chr13:86318421-86318422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553506405	chr13:86318427-86318428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563915320	chr13:86318447-86318448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567079077	chr13:86318469-86318470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7335897	chr13:86318505-86318506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs614154	chr13:86318520-86318521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570882400	chr13:86318526-86318527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182581799	chr13:86318540-86318541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576346610	chr13:86318541-86318542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7317294	chr13:86318589-86318590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186560405	chr13:86318650-86318651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191320363	chr13:86318658-86318659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7317473	chr13:86318666-86318667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559322295	chr13:86318694-86318695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9547358	chr13:86318724-86318725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112972118	chr13:86318787-86318788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182336473	chr13:86318808-86318809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9547359	chr13:86318871-86318872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61968693	chr13:86318891-86318892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189049533	chr13:86318929-86318930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12560592	chr13:86318965-86318966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553682377	chr13:86319011-86319012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565689608	chr13:86319024-86319025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36187300	chr13:86319052-86319053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372697511	chr13:86319053-86319054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193129371	chr13:86319066-86319067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200514941	chr13:86319067-86319068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185229202	chr13:86319068-86319069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71125741	chr13:86319069-86319070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61968695	chr13:86319070-86319071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61968696	chr13:86319071-86319072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376828584	chr13:86319074-86319075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10672854	chr13:86319077-86319078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201922258	chr13:86319091-86319092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs627166	chr13:86319094-86319095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71125742	chr13:86319095-86319096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369037721	chr13:86319103-86319104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35302307	chr13:86319105-86319106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61968697	chr13:86319113-86319114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78134640	chr13:86319122-86319123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201257515	chr13:86319135-86319136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61968698	chr13:86319136-86319137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372655324	chr13:86319142-86319143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201621443	chr13:86319144-86319145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1752903	chr13:86319155-86319156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117248680	chr13:86319173-86319174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86315800-86319800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86317800-86320000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:86318000-86319800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:86319800-86320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:86319800-86320600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:86319800-86320800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:86320000-86320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:86320000-86320600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr13:86320000-86320800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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