Variant report

Variant	esv3340643
Chromosome Location	chr13:94579151-94583249
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	chr13:94578915..94582055-chr13:94582925..94586434,3	MCF-7	breast:
2	chr13:94578915..94582055-chr13:94582925..94586434,3	MCF-7	breast:

Extended variants
information (count: 181 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540734419	chr13:94579191-94579192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560483518	chr13:94579225-94579226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577183936	chr13:94579302-94579303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187709591	chr13:94579315-94579316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560634909	chr13:94579316-94579317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565059666	chr13:94579335-94579336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114703679	chr13:94579337-94579338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550399134	chr13:94579345-94579346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189891420	chr13:94579370-94579371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145267613	chr13:94579385-94579386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147617949	chr13:94579404-94579405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113999637	chr13:94579415-94579416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566449276	chr13:94579420-94579421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552615241	chr13:94579428-94579429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552834832	chr13:94579458-94579459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143579110	chr13:94579459-94579460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574704500	chr13:94579488-94579489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8002566	chr13:94579527-94579528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555154774	chr13:94579543-94579544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575108396	chr13:94579551-94579552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548866559	chr13:94579556-94579557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534251416	chr13:94579568-94579569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568595320	chr13:94579606-94579607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116747729	chr13:94579634-94579635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577146237	chr13:94579658-94579659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182154029	chr13:94579690-94579691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9516315	chr13:94579698-94579699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188077621	chr13:94579705-94579706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575153504	chr13:94579742-94579743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544101898	chr13:94579761-94579762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560718415	chr13:94579762-94579763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529874988	chr13:94579786-94579787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546269916	chr13:94579790-94579791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560038971	chr13:94579807-94579808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543521939	chr13:94579814-94579815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9516316	chr13:94579873-94579874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532126253	chr13:94579879-94579880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397851453	chr13:94579941-94579942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10592821	chr13:94579955-94579956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540602272	chr13:94579956-94579957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148938055	chr13:94580003-94580004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143816705	chr13:94580044-94580045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538511350	chr13:94580083-94580084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74682352	chr13:94580111-94580112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192976093	chr13:94580169-94580170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566029916	chr13:94580178-94580179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138498411	chr13:94580234-94580235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145449726	chr13:94580245-94580246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76107408	chr13:94580246-94580247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184698448	chr13:94580275-94580276	Weak transcription Enhancers	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94573800-94583200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94577800-94579200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:94577800-94580000	Enhancers	HSMM	muscle
4	chr13:94577800-94580000	Enhancers	Osteobl	bone
5	chr13:94577800-94580200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:94577800-94580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:94578000-94579200	Enhancers	Fetal Heart	heart
8	chr13:94578000-94579400	Enhancers	HSMMtube	muscle
9	chr13:94578800-94588200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:94583200-94583600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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