Variant report

Variant	esv2209225
Chromosome Location	chr13:30577958-30578371
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	chr13:30577169..30579617-chr13:30592820..30595697,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146050527	chr13:30577967-30577968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3945326	chr13:30578010-30578011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115118120	chr13:30578021-30578022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77903284	chr13:30578038-30578039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527906655	chr13:30578042-30578043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564963694	chr13:30578048-30578049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34073870	chr13:30578057-30578058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146807786	chr13:30578063-30578064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143918291	chr13:30578111-30578112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61949360	chr13:30578116-30578117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183421393	chr13:30578117-30578118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78256813	chr13:30578120-30578121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75307935	chr13:30578121-30578122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78260190	chr13:30578130-30578131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541132900	chr13:30578131-30578132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74954998	chr13:30578139-30578140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75382960	chr13:30578140-30578141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11268282	chr13:30578141-30578142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11843096	chr13:30578146-30578147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147282679	chr13:30578148-30578149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55633235	chr13:30578150-30578151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11843098	chr13:30578156-30578157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11840252	chr13:30578157-30578158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74045813	chr13:30578158-30578159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9506251	chr13:30578163-30578164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1547281	chr13:30578167-30578168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75704223	chr13:30578172-30578173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80344338	chr13:30578173-30578174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78980545	chr13:30578174-30578175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148188767	chr13:30578178-30578179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200616674	chr13:30578184-30578185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11616654	chr13:30578186-30578187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531307163	chr13:30578189-30578190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138826065	chr13:30578208-30578209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111532180	chr13:30578211-30578212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370141459	chr13:30578213-30578214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35831078	chr13:30578269-30578270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150900883	chr13:30578290-30578291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536280074	chr13:30578301-30578302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139432153	chr13:30578313-30578314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186635046	chr13:30578330-30578331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545220838	chr13:30578343-30578344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4991495	chr13:30578347-30578348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145247149	chr13:30578353-30578354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30569200-30578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30574000-30578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30574400-30579400	Weak transcription	Spleen	Spleen
5	chr13:30576600-30578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30576800-30578400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:30577000-30578400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:30577000-30578400	Weak transcription	NH-A	brain
9	chr13:30577000-30580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:30577200-30578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:30577200-30578400	Weak transcription	HSMM	muscle
12	chr13:30577200-30578400	Weak transcription	NHLF	lung
13	chr13:30577200-30578400	Weak transcription	Osteobl	bone
14	chr13:30577800-30578800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:30577800-30578800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30577800-30578800	Enhancers	NHEK	skin
17	chr13:30577800-30579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:30577800-30579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:30577800-30579800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:30577800-30579800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:30577800-30579800	Enhancers	NHDF-Ad	bronchial
22	chr13:30577800-30581200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr13:30578000-30578200	Enhancers	HMEC	breast
24	chr13:30578000-30578600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:30578000-30578800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr13:30578000-30581000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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