Variant report

Variant	esv1801126
Chromosome Location	chr13:39057419-39081413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:39054749..39056526-chr13:39059043..39061059,2	MCF-7	breast:
2	chr13:39061344..39062876-chr13:39063009..39065088,2	K562	blood:
3	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:
4	chr13:39057074..39058739-chr13:39059031..39060761,2	MCF-7	breast:
5	chr13:39061344..39062876-chr13:39063009..39065088,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UFM1-10	chr13:39080267-39080430	l_813_chr13:39075555-39112477_heart
2	lnc-UFM1-10	chr13:39075556-39075779	l_813_chr13:39075555-39112477_heart

No data

Extended variants
information (count: 364 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528788250	chr13:39057456-39057457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73464376	chr13:39057476-39057477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112496999	chr13:39057531-39057532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537212913	chr13:39057684-39057685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200874346	chr13:39057717-39057718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569440468	chr13:39057742-39057743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112035978	chr13:39057836-39057837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555078387	chr13:39057852-39057853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138669500	chr13:39057962-39057963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75499166	chr13:39058052-39058053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568841184	chr13:39058082-39058083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557999457	chr13:39058178-39058179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9548369	chr13:39058184-39058185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141883009	chr13:39058211-39058212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375220905	chr13:39058294-39058295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146276931	chr13:39058296-39058297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543101056	chr13:39058314-39058315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559488648	chr13:39058315-39058316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139378080	chr13:39058364-39058365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55754451	chr13:39058389-39058390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551801593	chr13:39058392-39058393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545233192	chr13:39058475-39058476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551083877	chr13:39058519-39058520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369749739	chr13:39058534-39058535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201704358	chr13:39058543-39058544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565604504	chr13:39058570-39058571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531088224	chr13:39058647-39058648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9548370	chr13:39058648-39058649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567479989	chr13:39058655-39058656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141629946	chr13:39058660-39058661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527756308	chr13:39058682-39058683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369878808	chr13:39058705-39058706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116737897	chr13:39058726-39058727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114532061	chr13:39058737-39058738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557448007	chr13:39059052-39059053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373064579	chr13:39059133-39059134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115339087	chr13:39059162-39059163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116397058	chr13:39059167-39059168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557199970	chr13:39059168-39059169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7491141	chr13:39059237-39059238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2323913	chr13:39059244-39059245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200347346	chr13:39059258-39059259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559761322	chr13:39059297-39059298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112936422	chr13:39059370-39059371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191029040	chr13:39059393-39059394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2323914	chr13:39059457-39059458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113158550	chr13:39059560-39059561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565131367	chr13:39059579-39059580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531149579	chr13:39059597-39059598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550814768	chr13:39059605-39059606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	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
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39046200-39061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39067200-39067600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:39069200-39069600	Enhancers	Ovary	ovary
4	chr13:39069600-39071000	Weak transcription	Ovary	ovary
5	chr13:39071000-39071400	Enhancers	Ovary	ovary
6	chr13:39071000-39071800	Enhancers	Fetal Lung	lung
7	chr13:39071200-39071600	Enhancers	Adipose Nuclei	Adipose
8	chr13:39071400-39072600	Weak transcription	Ovary	ovary
9	chr13:39072600-39072800	Enhancers	Ovary	ovary
10	chr13:39079400-39079600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:39079600-39093400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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