Variant report

Variant	nsv581334
Chromosome Location	chr2:34046688-34065620
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	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
2	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:

Extended variants
information (count: 272 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13017284	chr2:34046688-34046689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370013656	chr2:34046690-34046691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183541717	chr2:34046692-34046693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111673855	chr2:34046721-34046722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577425988	chr2:34046780-34046781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546197767	chr2:34046795-34046796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559494580	chr2:34046833-34046834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188866633	chr2:34046845-34046846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192422748	chr2:34046884-34046885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561486018	chr2:34046934-34046935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530418684	chr2:34047016-34047017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550501240	chr2:34047021-34047022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183321622	chr2:34047067-34047068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77075221	chr2:34047097-34047098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546937910	chr2:34047106-34047107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13400794	chr2:34047126-34047127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs17014116	chr2:34047156-34047157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578259015	chr2:34047160-34047161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548699510	chr2:34047162-34047163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568521571	chr2:34047171-34047172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537159858	chr2:34047184-34047185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373421854	chr2:34047196-34047197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186957668	chr2:34047198-34047199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7565016	chr2:34047210-34047211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs143264342	chr2:34047241-34047242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552250768	chr2:34047276-34047277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553288743	chr2:34047333-34047334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151302691	chr2:34047351-34047352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140545695	chr2:34047361-34047362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191405389	chr2:34047368-34047369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555541505	chr2:34047374-34047375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575256572	chr2:34047385-34047386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542714397	chr2:34047394-34047395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67093170	chr2:34047472-34047473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397984273	chr2:34047485-34047486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534778459	chr2:34047490-34047491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35345871	chr2:34047499-34047500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374518221	chr2:34047532-34047533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540517288	chr2:34047535-34047536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184177316	chr2:34047570-34047571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529208474	chr2:34047628-34047629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61095743	chr2:34047636-34047637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373091303	chr2:34047661-34047662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10182275	chr2:34047663-34047664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10182276	chr2:34047665-34047666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549158609	chr2:34047770-34047771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568972952	chr2:34047776-34047777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574869949	chr2:34047777-34047778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1971557	chr2:34047782-34047783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1543978	chr2:34047785-34047786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34046000-34050400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:34046400-34047400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:34057200-34057400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:34061000-34061800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:34064800-34065200	Active TSS	Brain Substantia Nigra	brain
6	chr2:34065000-34065200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:34065600-34065800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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