Variant report

Variant	esv1842146
Chromosome Location	chr13:93232301-93241744
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	chr13:93239441..93241282-chr13:93243358..93246223,2	K562	blood:
2	chr13:93187246..93189629-chr13:93231804..93233615,2	K562	blood:

Extended variants
information (count: 314 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9589584	chr13:93232301-93232302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570676861	chr13:93232347-93232348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539683841	chr13:93232361-93232362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144501976	chr13:93232405-93232406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576137811	chr13:93232408-93232409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535998936	chr13:93232473-93232474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186704970	chr13:93232475-93232476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572504318	chr13:93232528-93232529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541461341	chr13:93232535-93232536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564441048	chr13:93232556-93232557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578195726	chr13:93232613-93232614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148016294	chr13:93232748-93232749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141616585	chr13:93232834-93232835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529481319	chr13:93232850-93232851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374178156	chr13:93232851-93232852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116410988	chr13:93232853-93232854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114112955	chr13:93232863-93232864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527357412	chr13:93232889-93232890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547003192	chr13:93232899-93232900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368091316	chr13:93232922-93232923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140600060	chr13:93232942-93232943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191567940	chr13:93232988-93232989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550043990	chr13:93232995-93232996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144527331	chr13:93233008-93233009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575108829	chr13:93233032-93233033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147392317	chr13:93233103-93233104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79190231	chr13:93233144-93233145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553398139	chr13:93233167-93233168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535082377	chr13:93233234-93233235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182963161	chr13:93233238-93233239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139681876	chr13:93233256-93233257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543802253	chr13:93233281-93233282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560051393	chr13:93233291-93233292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563993622	chr13:93233303-93233304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573924912	chr13:93233330-93233331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542833857	chr13:93233358-93233359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188072356	chr13:93233439-93233440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192727734	chr13:93233464-93233465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573450025	chr13:93233520-93233521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79003111	chr13:93233526-93233527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149940246	chr13:93233530-93233531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185144544	chr13:93233543-93233544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549838151	chr13:93233560-93233561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73621542	chr13:93233603-93233604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529170292	chr13:93233717-93233718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375350664	chr13:93233783-93233784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565834470	chr13:93233799-93233800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573348637	chr13:93233800-93233801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367716887	chr13:93233806-93233807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545290857	chr13:93233820-93233821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93226200-93235600	Weak transcription	Right Atrium	heart
2	chr13:93237200-93277400	Weak transcription	Right Atrium	heart

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