Variant report

Variant	esv3321835
Chromosome Location	chr13:94541851-94546449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147606895	chr13:94541895-94541896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538992836	chr13:94541896-94541897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74111035	chr13:94541900-94541901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191755683	chr13:94541909-94541910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538062020	chr13:94541913-94541914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554737150	chr13:94541962-94541963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142184165	chr13:94541989-94541990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540221457	chr13:94542049-94542050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375558867	chr13:94542059-94542060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139169587	chr13:94542105-94542106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149349535	chr13:94542110-94542111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549920043	chr13:94542189-94542190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368715087	chr13:94542217-94542218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533642587	chr13:94542225-94542226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565193802	chr13:94542239-94542240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201844189	chr13:94542244-94542245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182289705	chr13:94542260-94542261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9561461	chr13:94542295-94542296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372273345	chr13:94542303-94542304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550801321	chr13:94542388-94542389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553417735	chr13:94542428-94542429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187367203	chr13:94542434-94542435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375565708	chr13:94542459-94542460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117939214	chr13:94542464-94542465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566489473	chr13:94542466-94542467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189714390	chr13:94542502-94542503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143634305	chr13:94542514-94542515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182071535	chr13:94542521-94542522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538002615	chr13:94542551-94542552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187071451	chr13:94542556-94542557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568451350	chr13:94542561-94542562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534332012	chr13:94542570-94542571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553867016	chr13:94542640-94542641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577275741	chr13:94542644-94542645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141988802	chr13:94542655-94542656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146157991	chr13:94542682-94542683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138954305	chr13:94542688-94542689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561186546	chr13:94542689-94542690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529729357	chr13:94542710-94542711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189993594	chr13:94542718-94542719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540355076	chr13:94542756-94542757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539398239	chr13:94542776-94542777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556231585	chr13:94542799-94542800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9301916	chr13:94542806-94542807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs182448629	chr13:94542824-94542825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188520107	chr13:94542867-94542868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555044416	chr13:94542894-94542895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541620606	chr13:94542907-94542908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531920517	chr13:94542911-94542912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199961581	chr13:94542968-94542969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94540800-94542000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:94541000-94542200	Weak transcription	Fetal Heart	heart
3	chr13:94541800-94542800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:94542000-94543600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:94542400-94542600	Enhancers	Fetal Heart	heart
6	chr13:94543600-94544200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:94544200-94546400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:94546400-94547000	Enhancers	Pancreatic Islets	Pancreatic Islet

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