Variant report

Variant	esv3358140
Chromosome Location	chr13:67115901-67118199
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	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371167883	chr13:67115919-67115920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115488381	chr13:67115932-67115933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568514675	chr13:67115939-67115940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs207473948	chr13:67115948-67115949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144023032	chr13:67116002-67116003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554257817	chr13:67116020-67116021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543758107	chr13:67116037-67116038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568288469	chr13:67116088-67116089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147322360	chr13:67116121-67116122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554105871	chr13:67116146-67116147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577457972	chr13:67116157-67116158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17081494	chr13:67116162-67116163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188085594	chr13:67116204-67116205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541004170	chr13:67116229-67116230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374336214	chr13:67116237-67116238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576516302	chr13:67116309-67116310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542311428	chr13:67116333-67116334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1932882	chr13:67116365-67116366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141040821	chr13:67116393-67116394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142683905	chr13:67116429-67116430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78375636	chr13:67116472-67116473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532389660	chr13:67116514-67116515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552062049	chr13:67116557-67116558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568478586	chr13:67116586-67116587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74500198	chr13:67116633-67116634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545087543	chr13:67116695-67116696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547810556	chr13:67116806-67116807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180936061	chr13:67116807-67116808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533691809	chr13:67116811-67116812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67355177	chr13:67116826-67116827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537814259	chr13:67116827-67116828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541903967	chr13:67116829-67116830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545312296	chr13:67116837-67116838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200900014	chr13:67116841-67116842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202037231	chr13:67116843-67116844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148413119	chr13:67116877-67116878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36068454	chr13:67116903-67116904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540100494	chr13:67116927-67116928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556914136	chr13:67116942-67116943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57820122	chr13:67116947-67116948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17081495	chr13:67116988-67116989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371120760	chr13:67117043-67117044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554052003	chr13:67117047-67117048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74412894	chr13:67117075-67117076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373167145	chr13:67117095-67117096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568699251	chr13:67117160-67117161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140907308	chr13:67117212-67117213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111229628	chr13:67117234-67117235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144789043	chr13:67117264-67117265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190756735	chr13:67117272-67117273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67111800-67120400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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