Variant report

Variant	esv3413133
Chromosome Location	chr2:212037559-212041187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377271960	chr2:212037636-212037637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546695149	chr2:212037640-212037641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185344609	chr2:212037650-212037651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534894593	chr2:212037654-212037655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142282583	chr2:212037696-212037697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73073675	chr2:212037772-212037773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369800393	chr2:212037776-212037777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368209246	chr2:212037809-212037810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115157487	chr2:212037815-212037816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200717612	chr2:212037825-212037826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373522910	chr2:212037830-212037831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549544476	chr2:212037848-212037849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554687947	chr2:212037849-212037850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386654734	chr2:212037918-212037919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4422100	chr2:212037928-212037929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373410246	chr2:212037950-212037951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4271704	chr2:212037952-212037953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374728334	chr2:212037960-212037961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560390705	chr2:212037989-212037990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369759321	chr2:212038031-212038032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4591289	chr2:212038050-212038051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188845416	chr2:212038054-212038055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140721384	chr2:212038101-212038102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545965182	chr2:212038129-212038130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561203598	chr2:212038132-212038133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200027849	chr2:212038139-212038140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529708984	chr2:212038156-212038157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564056735	chr2:212038163-212038164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531436647	chr2:212038185-212038186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2164840	chr2:212038217-212038218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566480915	chr2:212038318-212038319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6435608	chr2:212038327-212038328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552007686	chr2:212038329-212038330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571778562	chr2:212038375-212038376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201520448	chr2:212038427-212038428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200523246	chr2:212038434-212038435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79939024	chr2:212038435-212038436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145748301	chr2:212038492-212038493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548447359	chr2:212038553-212038554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181303323	chr2:212038560-212038561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567666412	chr2:212038581-212038582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75087344	chr2:212038654-212038655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199644171	chr2:212038673-212038674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1344906	chr2:212038675-212038676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573159472	chr2:212038700-212038701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545459155	chr2:212038783-212038784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138452260	chr2:212038784-212038785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575383184	chr2:212038800-212038801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200713178	chr2:212038813-212038814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73985165	chr2:212038848-212038849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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	21346763	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212037600-212039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212037800-212039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212039000-212045800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links