Variant report

Variant	esv3511563
Chromosome Location	chr13:61553034-61553869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2174312	chr13:61553050-61553051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543500397	chr13:61553068-61553069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547171452	chr13:61553163-61553164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386419871	chr13:61553181-61553182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72518883	chr13:61553187-61553188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200669961	chr13:61553189-61553190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78644057	chr13:61553190-61553191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4054730	chr13:61553200-61553201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185224356	chr13:61553201-61553202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532979758	chr13:61553260-61553261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551141142	chr13:61553294-61553295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374369292	chr13:61553307-61553308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536632611	chr13:61553332-61553333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370370148	chr13:61553359-61553360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79891194	chr13:61553368-61553369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576488440	chr13:61553378-61553379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567938492	chr13:61553408-61553409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535374146	chr13:61553411-61553412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2134864	chr13:61553437-61553438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs578197683	chr13:61553450-61553451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530264976	chr13:61553454-61553455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557137089	chr13:61553456-61553457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188465649	chr13:61553462-61553463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542655060	chr13:61553484-61553485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539806667	chr13:61553511-61553512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373736647	chr13:61553514-61553515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561365243	chr13:61553544-61553545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528480116	chr13:61553596-61553597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540897349	chr13:61553646-61553647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559224390	chr13:61553717-61553718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532919527	chr13:61553732-61553733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551592201	chr13:61553734-61553735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569647067	chr13:61553790-61553791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181229599	chr13:61553797-61553798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542141825	chr13:61553799-61553800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75165757	chr13:61553865-61553866	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61552800-61564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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