Variant report

Variant	esv3459013
Chromosome Location	chr2:205517323-205519359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182846869	chr2:205517333-205517334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370614253	chr2:205517366-205517367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549149237	chr2:205517394-205517395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561318777	chr2:205517402-205517403	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373727377	chr2:205517404-205517405	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187327397	chr2:205517447-205517448	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571367998	chr2:205517453-205517454	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376939234	chr2:205517479-205517480	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs80039968	chr2:205517533-205517534	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550446893	chr2:205517585-205517586	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550358282	chr2:205517628-205517629	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191735276	chr2:205517629-205517630	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536534587	chr2:205517661-205517662	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561828059	chr2:205517687-205517688	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554298216	chr2:205517689-205517690	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566487222	chr2:205517700-205517701	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541285333	chr2:205517725-205517726	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376221424	chr2:205517759-205517760	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184654239	chr2:205517828-205517829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568891626	chr2:205517833-205517834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114153859	chr2:205517902-205517903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114697174	chr2:205517908-205517909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11688854	chr2:205517967-205517968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371854593	chr2:205517981-205517982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531223155	chr2:205517999-205518000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59994946	chr2:205518008-205518009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77657799	chr2:205518018-205518019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528518830	chr2:205518038-205518039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148233681	chr2:205518082-205518083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533845320	chr2:205518092-205518093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575881836	chr2:205518140-205518141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543283380	chr2:205518215-205518216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561392983	chr2:205518251-205518252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528477994	chr2:205518279-205518280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62177798	chr2:205518340-205518341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565085048	chr2:205518387-205518388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372429927	chr2:205518445-205518446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150788189	chr2:205518446-205518447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532467998	chr2:205518477-205518478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569015064	chr2:205518526-205518527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35190366	chr2:205518528-205518529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62177799	chr2:205518534-205518535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529824268	chr2:205518556-205518557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188961017	chr2:205518597-205518598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566730231	chr2:205518642-205518643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73984262	chr2:205518649-205518650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558581585	chr2:205518662-205518663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570599275	chr2:205518666-205518667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193269555	chr2:205518682-205518683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113686859	chr2:205518715-205518716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205505400-205521600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:205510400-205519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:205510600-205519600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:205515200-205520000	Weak transcription	Psoas Muscle	Psoas
6	chr2:205516600-205517800	ZNF genes & repeats	Fetal Lung	lung
7	chr2:205516800-205517400	Weak transcription	Fetal Stomach	stomach
8	chr2:205516800-205519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:205516800-205519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:205516800-205519600	Weak transcription	Aorta	Aorta
11	chr2:205517200-205530000	Weak transcription	Ovary	ovary
12	chr2:205517400-205518000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:205517800-205519000	Weak transcription	Fetal Lung	lung
14	chr2:205519000-205520000	Enhancers	Fetal Lung	lung
15	chr2:205519000-205522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:205519200-205519400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:205519200-205520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:205519200-205520600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:205519200-205520800	Enhancers	NHDF-Ad	bronchial

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