Variant report

Variant	esv3323300
Chromosome Location	chr2:212414957-212416105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534841708	chr2:212414990-212414991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557317889	chr2:212415032-212415033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558210920	chr2:212415034-212415035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577807227	chr2:212415040-212415041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62180214	chr2:212415046-212415047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375939719	chr2:212415048-212415049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145901773	chr2:212415049-212415050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13392773	chr2:212415071-212415072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76248075	chr2:212415099-212415100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35379267	chr2:212415116-212415117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538554331	chr2:212415141-212415142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368794107	chr2:212415178-212415179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138407366	chr2:212415221-212415222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76119799	chr2:212415241-212415242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574983015	chr2:212415279-212415280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530849501	chr2:212415299-212415300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376362405	chr2:212415300-212415301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191813738	chr2:212415319-212415320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71054111	chr2:212415320-212415321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114278080	chr2:212415372-212415373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375966884	chr2:212415433-212415434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549878665	chr2:212415437-212415438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79835683	chr2:212415477-212415478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116054737	chr2:212415506-212415507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546253617	chr2:212415538-212415539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183766700	chr2:212415555-212415556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529629385	chr2:212415563-212415564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549682529	chr2:212415638-212415639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80109488	chr2:212415662-212415663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201982757	chr2:212415704-212415705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558011732	chr2:212415753-212415754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571724202	chr2:212415761-212415762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537105397	chr2:212415802-212415803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556762204	chr2:212415814-212415815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573470147	chr2:212415819-212415820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374312103	chr2:212415832-212415833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542538879	chr2:212415833-212415834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188301745	chr2:212415847-212415848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141375741	chr2:212415883-212415884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143069864	chr2:212415900-212415901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13014132	chr2:212415917-212415918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530650927	chr2:212415924-212415925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374924273	chr2:212415936-212415937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12475861	chr2:212415948-212415949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs192984518	chr2:212415961-212415962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373555462	chr2:212415962-212415963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549745328	chr2:212416028-212416029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13421680	chr2:212416029-212416030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528741149	chr2:212416043-212416044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212395400-212419200	Weak transcription	Aorta	Aorta
2	chr2:212411800-212419200	Weak transcription	Gastric	stomach
3	chr2:212413000-212418800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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