Variant report

Variant	esv2754798
Chromosome Location	chr2:76591844-76613323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
2	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
3	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
4	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:

Extended variants
information (count: 442 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1405345	chr2:76595829-76595830	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184531998	chr2:76595842-76595843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554611922	chr2:76595915-76595916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572858231	chr2:76595985-76595986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557018485	chr2:76595995-76595996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569958570	chr2:76596037-76596038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537210702	chr2:76596045-76596046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558827227	chr2:76596102-76596103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111410120	chr2:76596198-76596199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541431698	chr2:76596219-76596220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1526640	chr2:76596233-76596234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574753223	chr2:76596248-76596249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151215008	chr2:76596270-76596271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367603359	chr2:76596274-76596275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542003880	chr2:76596324-76596325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563762222	chr2:76596327-76596328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116089171	chr2:76596356-76596357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545970790	chr2:76596391-76596392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369735878	chr2:76596513-76596514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564390999	chr2:76596516-76596517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528338229	chr2:76596517-76596518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576469393	chr2:76596521-76596522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146553970	chr2:76596531-76596532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55816911	chr2:76596584-76596585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143397762	chr2:76596666-76596667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550416328	chr2:76596723-76596724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568567930	chr2:76596729-76596730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537269955	chr2:76596732-76596733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77999571	chr2:76596755-76596756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78910088	chr2:76596756-76596757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371639210	chr2:76596766-76596767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560004152	chr2:76596781-76596782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76546483	chr2:76596793-76596794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552319018	chr2:76596865-76596866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544085989	chr2:76596921-76596922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546301010	chr2:76597001-76597002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562470425	chr2:76597054-76597055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188418885	chr2:76597137-76597138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553625022	chr2:76597144-76597145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574779516	chr2:76597169-76597170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535800478	chr2:76597177-76597178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1526641	chr2:76597187-76597188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs575777114	chr2:76597203-76597204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148363778	chr2:76597247-76597248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181184145	chr2:76597248-76597249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548098777	chr2:76597256-76597257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113904144	chr2:76597267-76597268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111504226	chr2:76597290-76597291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189024467	chr2:76597308-76597309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550133244	chr2:76597376-76597377	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76595800-76596000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76596000-76604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:76604600-76604800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:76604800-76605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:76605800-76606200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:76607200-76609200	Enhancers	Fetal Heart	heart
7	chr2:76613000-76613600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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