Variant report

Variant	esv3325491
Chromosome Location	chr2:184891107-184894905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
2	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
3	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
4	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
5	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538220993	chr2:184891145-184891146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529377230	chr2:184891158-184891159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182492893	chr2:184891172-184891173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397873400	chr2:184891175-184891176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397871207	chr2:184891176-184891177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201017989	chr2:184891177-184891178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139332895	chr2:184891206-184891207	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145105733	chr2:184891219-184891220	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368466103	chr2:184891225-184891226	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549680127	chr2:184891248-184891249	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34673355	chr2:184891271-184891272	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569732750	chr2:184891310-184891311	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187069062	chr2:184891312-184891313	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189914610	chr2:184891322-184891323	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372450953	chr2:184891337-184891338	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143281808	chr2:184891356-184891357	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75187210	chr2:184891363-184891364	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554466411	chr2:184891406-184891407	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577440674	chr2:184891423-184891424	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540027968	chr2:184891472-184891473	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs540093175	chr2:184891507-184891508	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547471561	chr2:184891526-184891527	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35849250	chr2:184891574-184891575	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs542339868	chr2:184891610-184891611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573468406	chr2:184891611-184891612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4399682	chr2:184891621-184891622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138356557	chr2:184891641-184891642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541401849	chr2:184891644-184891645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34345228	chr2:184891656-184891657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564424698	chr2:184891686-184891687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62175084	chr2:184891740-184891741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149274177	chr2:184891745-184891746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144491711	chr2:184891765-184891766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139356068	chr2:184891788-184891789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79994735	chr2:184891828-184891829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548654940	chr2:184891853-184891854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114791305	chr2:184891865-184891866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534339058	chr2:184891968-184891969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551044872	chr2:184891995-184891996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571133502	chr2:184892027-184892028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77027538	chr2:184892081-184892082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111865163	chr2:184892093-184892094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576688457	chr2:184892133-184892134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535986887	chr2:184892139-184892140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182129562	chr2:184892177-184892178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555912208	chr2:184892180-184892181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373880511	chr2:184892194-184892195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142193169	chr2:184892309-184892310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12614712	chr2:184892312-184892313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151250062	chr2:184892345-184892346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184883800-184911600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:184888000-184896600	Weak transcription	GM12878-XiMat	blood
3	chr2:184888800-184891200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:184890000-184895200	Weak transcription	Fetal Heart	heart
5	chr2:184891200-184891600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:184891600-184891800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:184891800-184895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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