Variant report

Variant	esv3329344
Chromosome Location	chr13:54730701-54732999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187849376	chr13:54730718-54730719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569263515	chr13:54730726-54730727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150474503	chr13:54730765-54730766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550935669	chr13:54730813-54730814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111830255	chr13:54730864-54730865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192758881	chr13:54730927-54730928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539665818	chr13:54730961-54730962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138285461	chr13:54730980-54730981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561486800	chr13:54731018-54731019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184821324	chr13:54731021-54731022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577671872	chr13:54731028-54731029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575232786	chr13:54731081-54731082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58112675	chr13:54731084-54731085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144483360	chr13:54731118-54731119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560310061	chr13:54731124-54731125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558031635	chr13:54731167-54731168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34861486	chr13:54731269-54731270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1335977	chr13:54731270-54731271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187845262	chr13:54731283-54731284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562371227	chr13:54731300-54731301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560775355	chr13:54731329-54731330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36031701	chr13:54731370-54731371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114778748	chr13:54731378-54731379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192249853	chr13:54731427-54731428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562832958	chr13:54731440-54731441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531741477	chr13:54731447-54731448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1335976	chr13:54731473-54731474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564386236	chr13:54731513-54731514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533299566	chr13:54731613-54731614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71706987	chr13:54731636-54731637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568070256	chr13:54731638-54731639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60495921	chr13:54731639-54731640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184424516	chr13:54731666-54731667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189522587	chr13:54731731-54731732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143502859	chr13:54731779-54731780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138003741	chr13:54731788-54731789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549069936	chr13:54731814-54731815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568810452	chr13:54731828-54731829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537472630	chr13:54731903-54731904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181874291	chr13:54731905-54731906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577206431	chr13:54731956-54731957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75740733	chr13:54732116-54732117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527379870	chr13:54732127-54732128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574215489	chr13:54732152-54732153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183888174	chr13:54732165-54732166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563003554	chr13:54732274-54732275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576570090	chr13:54732287-54732288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545501318	chr13:54732323-54732324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569387082	chr13:54732337-54732338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375941597	chr13:54732352-54732353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54722600-54736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:54722600-54741200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:54730800-54731200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr13:54731200-54739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links