Variant report

Variant	nsv916705
Chromosome Location	chr13:92549110-92575114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 381 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:381 , 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	rs529707905	chr13:92549196-92549197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375239440	chr13:92549210-92549211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369524063	chr13:92549230-92549231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139144986	chr13:92549281-92549282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66826503	chr13:92549282-92549283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61559455	chr13:92549283-92549284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71904228	chr13:92549290-92549291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397766659	chr13:92549292-92549293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185501256	chr13:92549293-92549294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190438476	chr13:92549301-92549302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559540554	chr13:92549305-92549306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528705774	chr13:92549315-92549316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375127194	chr13:92549388-92549389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9301758	chr13:92549424-92549425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs180866656	chr13:92549454-92549455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74106571	chr13:92549463-92549464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184545428	chr13:92549501-92549502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34783532	chr13:92549589-92549590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71113773	chr13:92549622-92549623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139498133	chr13:92549623-92549624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569656273	chr13:92549625-92549626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398023942	chr13:92549626-92549627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535064819	chr13:92549631-92549632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549086389	chr13:92549642-92549643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565607509	chr13:92549685-92549686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188467529	chr13:92549726-92549727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181300618	chr13:92549734-92549735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557510585	chr13:92549742-92549743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577563058	chr13:92549758-92549759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9589367	chr13:92549765-92549766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185523635	chr13:92549799-92549800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138881923	chr13:92549852-92549853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542628047	chr13:92549934-92549935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375227995	chr13:92550041-92550042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78008812	chr13:92550057-92550058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190376302	chr13:92550083-92550084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111567261	chr13:92550097-92550098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545644048	chr13:92550111-92550112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148987229	chr13:92550129-92550130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531270101	chr13:92550143-92550144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551302247	chr13:92550162-92550163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143062557	chr13:92550175-92550176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116182850	chr13:92550177-92550178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548688600	chr13:92550223-92550224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76060360	chr13:92550230-92550231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9583968	chr13:92550263-92550264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117281330	chr13:92550318-92550319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115147296	chr13:92550329-92550330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372715179	chr13:92550364-92550365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568374793	chr13:92550393-92550394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92543600-92550400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:92548600-92550000	Enhancers	HUVEC	blood vessel
3	chr13:92550000-92552200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:92550400-92551000	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:92550800-92551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:92555600-92557400	Enhancers	HUVEC	blood vessel
7	chr13:92556200-92557200	Enhancers	GM12878-XiMat	blood
8	chr13:92557400-92558400	Weak transcription	HUVEC	blood vessel
9	chr13:92558200-92558600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:92558400-92559000	Enhancers	HUVEC	blood vessel
11	chr13:92559000-92559600	Weak transcription	HUVEC	blood vessel
12	chr13:92559600-92560000	Enhancers	HUVEC	blood vessel
13	chr13:92560000-92560600	Flanking Active TSS	HUVEC	blood vessel
14	chr13:92560600-92561400	Active TSS	HUVEC	blood vessel
15	chr13:92565600-92566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:92571800-92572200	Enhancers	Fetal Heart	heart

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