Variant report

Variant	esv3517841
Chromosome Location	chr13:39528102-39530143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61945529	chr13:39528144-39528145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183175703	chr13:39528210-39528211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9548562	chr13:39528212-39528213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs61478760	chr13:39528293-39528294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555806043	chr13:39528348-39528349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56941051	chr13:39528357-39528358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554375313	chr13:39528368-39528369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76168882	chr13:39528409-39528410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572576665	chr13:39528424-39528425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368450015	chr13:39528434-39528435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538326952	chr13:39528438-39528439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139316318	chr13:39528445-39528446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575739821	chr13:39528458-39528459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544837818	chr13:39528464-39528465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561378228	chr13:39528473-39528474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117639965	chr13:39528490-39528491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540602832	chr13:39528559-39528560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560484635	chr13:39528563-39528564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558257582	chr13:39528614-39528615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71439790	chr13:39528672-39528673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7997113	chr13:39528723-39528724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9548563	chr13:39528740-39528741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs57209445	chr13:39528784-39528785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7999145	chr13:39528790-39528791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7998659	chr13:39528811-39528812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546521056	chr13:39528817-39528818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145424750	chr13:39528839-39528840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538287959	chr13:39528858-39528859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9548564	chr13:39528888-39528889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147201035	chr13:39528929-39528930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530558774	chr13:39528977-39528978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538015943	chr13:39529005-39529006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555164799	chr13:39529024-39529025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550389656	chr13:39529064-39529065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191683771	chr13:39529065-39529066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73454023	chr13:39529073-39529074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4420397	chr13:39529089-39529090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546179701	chr13:39529140-39529141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566731919	chr13:39529144-39529145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547310690	chr13:39529180-39529181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116890073	chr13:39529196-39529197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531846312	chr13:39529203-39529204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4448804	chr13:39529226-39529227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560730293	chr13:39529229-39529230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529874938	chr13:39529269-39529270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546484089	chr13:39529291-39529292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75974960	chr13:39529304-39529305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4281582	chr13:39529305-39529306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140495526	chr13:39529327-39529328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568826682	chr13:39529343-39529344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
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
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
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39526200-39529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39526600-39528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:39527000-39528200	Weak transcription	HMEC	breast
5	chr13:39528000-39532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:39528200-39529200	Enhancers	HMEC	breast
7	chr13:39528600-39528800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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