Variant report

Variant	esv3376580
Chromosome Location	chr2:210278057-210280305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545651080	chr2:210278070-210278071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565477188	chr2:210278116-210278117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530405601	chr2:210278123-210278124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117162400	chr2:210278125-210278126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560638489	chr2:210278136-210278137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529698194	chr2:210278212-210278213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9679620	chr2:210278362-210278363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566629797	chr2:210278374-210278375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538470701	chr2:210278384-210278385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188771636	chr2:210278395-210278396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372067624	chr2:210278412-210278413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35793696	chr2:210278437-210278438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533654219	chr2:210278453-210278454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76236419	chr2:210278454-210278455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569201020	chr2:210278470-210278471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13393446	chr2:210278492-210278493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181587484	chr2:210278503-210278504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185351024	chr2:210278563-210278564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574087484	chr2:210278566-210278567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55883327	chr2:210278597-210278598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs9677799	chr2:210278658-210278659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553207560	chr2:210278672-210278673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147431930	chr2:210278695-210278696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545303096	chr2:210278701-210278702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372991022	chr2:210278722-210278723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188654782	chr2:210278756-210278757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535201721	chr2:210278757-210278758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75345704	chr2:210278767-210278768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544510463	chr2:210278768-210278769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369254392	chr2:210278842-210278843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180803602	chr2:210278845-210278846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546637301	chr2:210278864-210278865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186248537	chr2:210278879-210278880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375722194	chr2:210278932-210278933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551616345	chr2:210278942-210278943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532312045	chr2:210279066-210279067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552132627	chr2:210279079-210279080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569084119	chr2:210279154-210279155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139224699	chr2:210279215-210279216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548526071	chr2:210279421-210279422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191955855	chr2:210279494-210279495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182212541	chr2:210279509-210279510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567630970	chr2:210279567-210279568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536286475	chr2:210279604-210279605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111679587	chr2:210279670-210279671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186469391	chr2:210279754-210279755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573304867	chr2:210279764-210279765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57598578	chr2:210279793-210279794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558683794	chr2:210279817-210279818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149928312	chr2:210279871-210279872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210275600-210280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:210276800-210287200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:210277800-210278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:210277800-210278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:210278000-210278600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:210279000-210288400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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