Variant report

Variant	nsv819299
Chromosome Location	chr13:29752285-29754724
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	chr13:29754593..29756935-chr13:29798508..29800857,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550401940	chr13:29752334-29752335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4769684	chr13:29752354-29752355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149975468	chr13:29752401-29752402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17072887	chr13:29752441-29752442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11840899	chr13:29752452-29752453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200127056	chr13:29752462-29752463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17072891	chr13:29752497-29752498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568272609	chr13:29752524-29752525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76278067	chr13:29752548-29752549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183184729	chr13:29752583-29752584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550499941	chr13:29752588-29752589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149206641	chr13:29752638-29752639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539003045	chr13:29752641-29752642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375396381	chr13:29752642-29752643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188722357	chr13:29752646-29752647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369165144	chr13:29752680-29752681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566413418	chr13:29752717-29752718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35251425	chr13:29752739-29752740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554843353	chr13:29752751-29752752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11361210	chr13:29752781-29752782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575023400	chr13:29752806-29752807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192426177	chr13:29752830-29752831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7329581	chr13:29752831-29752832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557648530	chr13:29752832-29752833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565827555	chr13:29752995-29752996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552957878	chr13:29753013-29753014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534756770	chr13:29753038-29753039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9508305	chr13:29753054-29753055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542353472	chr13:29753076-29753077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557151410	chr13:29753089-29753090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542353346	chr13:29753118-29753119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561721835	chr13:29753137-29753138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9508306	chr13:29753146-29753147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546105409	chr13:29753150-29753151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377000766	chr13:29753193-29753194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142456704	chr13:29753216-29753217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570386545	chr13:29753231-29753232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570370346	chr13:29753234-29753235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533075713	chr13:29753242-29753243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9508307	chr13:29753269-29753270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369509835	chr13:29753272-29753273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9508308	chr13:29753278-29753279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7335449	chr13:29753300-29753301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140656741	chr13:29753403-29753404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183959551	chr13:29753424-29753425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9579301	chr13:29753427-29753428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115416210	chr13:29753524-29753525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145827978	chr13:29753550-29753551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540164714	chr13:29753577-29753578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553397536	chr13:29753595-29753596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29734400-29752600	Weak transcription	Aorta	Aorta
2	chr13:29745600-29752400	Weak transcription	Fetal Heart	heart
3	chr13:29752400-29753200	Enhancers	Fetal Heart	heart
4	chr13:29752600-29752800	Enhancers	Aorta	Aorta
5	chr13:29753200-29765000	Weak transcription	Fetal Heart	heart

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