Variant report

Variant	esv2547748
Chromosome Location	chr2:76525879-76529668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:76524609..76526850-chr2:76529570..76531746,2	K562	blood:
2	chr2:76521785..76524023-chr2:76529327..76531798,2	K562	blood:
3	chr2:76524609..76526850-chr2:76529570..76531746,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532617853	chr2:76525915-76525916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs207461867	chr2:76525982-76525983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190429726	chr2:76526008-76526009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565945568	chr2:76526028-76526029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536262085	chr2:76526030-76526031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115816095	chr2:76526034-76526035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569546384	chr2:76526058-76526059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180694979	chr2:76526067-76526068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558351240	chr2:76526073-76526074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574352522	chr2:76526074-76526075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35028300	chr2:76526102-76526103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545167007	chr2:76526111-76526112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202024174	chr2:76526115-76526116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201943410	chr2:76526139-76526140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs70937901	chr2:76526140-76526141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4853213	chr2:76526142-76526143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372529090	chr2:76526143-76526144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77021092	chr2:76526144-76526145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201609451	chr2:76526170-76526171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375898338	chr2:76526182-76526183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186048130	chr2:76526183-76526184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561381446	chr2:76526200-76526201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531598583	chr2:76526201-76526202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191298704	chr2:76526220-76526221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565213201	chr2:76526231-76526232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532361357	chr2:76526235-76526236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13005979	chr2:76526252-76526253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181211542	chr2:76526258-76526259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185800298	chr2:76526300-76526301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190612758	chr2:76526306-76526307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13006506	chr2:76526320-76526321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569664025	chr2:76526371-76526372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377233241	chr2:76526378-76526379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs66608266	chr2:76526379-76526380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75623668	chr2:76526390-76526391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201027776	chr2:76526392-76526393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567327899	chr2:76526435-76526436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183171203	chr2:76526439-76526440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201739246	chr2:76526513-76526514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371326871	chr2:76527146-76527147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376046948	chr2:76527213-76527214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368596950	chr2:76527237-76527238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371523566	chr2:76527246-76527247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376614704	chr2:76527441-76527442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372463949	chr2:76527443-76527444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375816171	chr2:76527444-76527445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367875889	chr2:76527668-76527669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539005511	chr2:76527675-76527676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371710322	chr2:76527741-76527742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376290466	chr2:76527774-76527775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76524800-76526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:76525000-76526000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:76525200-76526200	Enhancers	Fetal Lung	lung
4	chr2:76525400-76526200	Enhancers	Fetal Heart	heart
5	chr2:76525400-76526400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76525600-76526000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:76526000-76526400	Enhancers	Fetal Brain Male	brain
8	chr2:76526400-76532400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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