Variant report

Variant	esv3385684
Chromosome Location	chr2:186009807-186014205
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	chr2:186012894..186015403-chr2:186019945..186021689,2	MCF-7	breast:
2	chr2:186012354..186014269-chr2:186018641..186020756,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190260162	chr2:186009814-186009815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78558676	chr2:186009842-186009843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533457947	chr2:186009860-186009861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559683024	chr2:186009862-186009863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143573287	chr2:186009870-186009871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566507249	chr2:186009879-186009880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148109939	chr2:186009886-186009887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141902429	chr2:186009968-186009969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567643407	chr2:186010024-186010025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538009803	chr2:186010035-186010036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182473471	chr2:186010053-186010054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545442618	chr2:186010074-186010075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187467941	chr2:186010076-186010077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545859526	chr2:186010127-186010128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557918507	chr2:186010128-186010129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572840141	chr2:186010155-186010156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540253808	chr2:186010156-186010157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561916708	chr2:186010176-186010177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192175741	chr2:186010262-186010263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544221614	chr2:186010278-186010279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562702185	chr2:186010289-186010290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114927955	chr2:186010290-186010291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183508312	chr2:186010321-186010322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115588845	chr2:186010322-186010323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527654303	chr2:186010351-186010352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548970715	chr2:186010369-186010370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567580617	chr2:186010375-186010376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368227362	chr2:186010401-186010402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538525582	chr2:186010470-186010471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1483234	chr2:186010471-186010472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1483235	chr2:186010475-186010476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538873257	chr2:186010487-186010488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368983695	chr2:186010501-186010502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188802782	chr2:186010502-186010503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540193085	chr2:186010507-186010508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555392029	chr2:186010519-186010520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573602301	chr2:186010521-186010522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544474335	chr2:186010528-186010529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562676643	chr2:186010534-186010535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193209547	chr2:186010575-186010576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186009000-186010600	Enhancers	Fetal Muscle Leg	muscle
2	chr2:186009800-186010200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:186010000-186010200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:186010000-186010400	Enhancers	Placenta	Placenta
5	chr2:186010200-186010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:186010200-186010600	Enhancers	Gastric	stomach

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