Variant report

Variant	esv2762480
Chromosome Location	chr2:35697479-35714936
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	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:
2	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265301	chromatin interactions
ENSG00000207255	chromatin interactions
ENSG00000229013	chromatin interactions

Extended variants
information (count: 418 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186139697	chr2:35697490-35697491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541603323	chr2:35697505-35697506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148480335	chr2:35697530-35697531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574989220	chr2:35697540-35697541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543895566	chr2:35697554-35697555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367882018	chr2:35697657-35697658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144169538	chr2:35697661-35697662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115245038	chr2:35697663-35697664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552224141	chr2:35697673-35697674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559589090	chr2:35697680-35697681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537019094	chr2:35697684-35697685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145994185	chr2:35697697-35697698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189972594	chr2:35697698-35697699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372120252	chr2:35697704-35697705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183292763	chr2:35697731-35697732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113540807	chr2:35697733-35697734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139905021	chr2:35697747-35697748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2714571	chr2:35697774-35697775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534954985	chr2:35697777-35697778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553143520	chr2:35697785-35697786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188062779	chr2:35697820-35697821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111348100	chr2:35697832-35697833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542138560	chr2:35697852-35697853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17016702	chr2:35697866-35697867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539494092	chr2:35697874-35697875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146565596	chr2:35697877-35697878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17327905	chr2:35697927-35697928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575050848	chr2:35698034-35698035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79667279	chr2:35698107-35698108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557475654	chr2:35698152-35698153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572782433	chr2:35698154-35698155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140992534	chr2:35698194-35698195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559443773	chr2:35698260-35698261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528398588	chr2:35698293-35698294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190489483	chr2:35698299-35698300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564467773	chr2:35698325-35698326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528574732	chr2:35698328-35698329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35664445	chr2:35698362-35698363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183699099	chr2:35698405-35698406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368769392	chr2:35698430-35698431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62143303	chr2:35698436-35698437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115039194	chr2:35698437-35698438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577475581	chr2:35698446-35698447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532835794	chr2:35698459-35698460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34882819	chr2:35698472-35698473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546577994	chr2:35698475-35698476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566302467	chr2:35698491-35698492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535353378	chr2:35698533-35698534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371809696	chr2:35698534-35698535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555248089	chr2:35698564-35698565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35693800-35701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35700600-35700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:35701200-35701400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35711600-35711800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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