Variant report

Variant	esv1844724
Chromosome Location	chr2:212773332-212774751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539196988	chr2:212773342-212773343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566565194	chr2:212773385-212773386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375122099	chr2:212773442-212773443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114630898	chr2:212773458-212773459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569347166	chr2:212773486-212773487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184100061	chr2:212773520-212773521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73077351	chr2:212773542-212773543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574804490	chr2:212773601-212773602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533840698	chr2:212773617-212773618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554074420	chr2:212773627-212773628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577070237	chr2:212773629-212773630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35919515	chr2:212773671-212773672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545545480	chr2:212773791-212773792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562361526	chr2:212773805-212773806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575695447	chr2:212773829-212773830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541555996	chr2:212773863-212773864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558273786	chr2:212773866-212773867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189431507	chr2:212773886-212773887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73077353	chr2:212773893-212773894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540681600	chr2:212773949-212773950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181034679	chr2:212773952-212773953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142579849	chr2:212773958-212773959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538977499	chr2:212773959-212773960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537032317	chr2:212774045-212774046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146329007	chr2:212774051-212774052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186443145	chr2:212774056-212774057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79986866	chr2:212774067-212774068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76592295	chr2:212774125-212774126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191293375	chr2:212774136-212774137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534155798	chr2:212774145-212774146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142795248	chr2:212774174-212774175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181438748	chr2:212774203-212774204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185908253	chr2:212774230-212774231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77087484	chr2:212774237-212774238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375082814	chr2:212774243-212774244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373682751	chr2:212774275-212774276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80182325	chr2:212774277-212774278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541518701	chr2:212774285-212774286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555401867	chr2:212774302-212774303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368459982	chr2:212774308-212774309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536442366	chr2:212774309-212774310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554682865	chr2:212774345-212774346	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212772600-212774200	Weak transcription	Fetal Heart	heart
2	chr2:212774200-212774400	Enhancers	Fetal Heart	heart

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