Variant report

Variant	nsv582223
Chromosome Location	chr2:76545193-76588942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:
2	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:
3	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:
4	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:

Extended variants
information (count: 627 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13422380	chr2:76545193-76545194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547450771	chr2:76545222-76545223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35193185	chr2:76545327-76545328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144182942	chr2:76545333-76545334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566737090	chr2:76545405-76545406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72807129	chr2:76545438-76545439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7587657	chr2:76545468-76545469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62163964	chr2:76545492-76545493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187174129	chr2:76545521-76545522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571503871	chr2:76545527-76545528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368733721	chr2:76545538-76545539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577956583	chr2:76545552-76545553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191905306	chr2:76545597-76545598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538884257	chr2:76545598-76545599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554211251	chr2:76545613-76545614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557412717	chr2:76545622-76545623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572272615	chr2:76545624-76545625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563733732	chr2:76545631-76545632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561053426	chr2:76545673-76545674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114514643	chr2:76545674-76545675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149235739	chr2:76545690-76545691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184335361	chr2:76545708-76545709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532095996	chr2:76545740-76545741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1358177	chr2:76545748-76545749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558986025	chr2:76545750-76545751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529733657	chr2:76545761-76545762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190265420	chr2:76545778-76545779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567500296	chr2:76545779-76545780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537020955	chr2:76545804-76545805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373756313	chr2:76545822-76545823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555086501	chr2:76545848-76545849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551039253	chr2:76545950-76545951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550416839	chr2:76545963-76545964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114493536	chr2:76545980-76545981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193267145	chr2:76546034-76546035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554316094	chr2:76546045-76546046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116200141	chr2:76546048-76546049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536740872	chr2:76546073-76546074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554831332	chr2:76546120-76546121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1519897	chr2:76546165-76546166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61212225	chr2:76546182-76546183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559734441	chr2:76546206-76546207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565156316	chr2:76546275-76546276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576763147	chr2:76546297-76546298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75900348	chr2:76546312-76546313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74385901	chr2:76546347-76546348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577902880	chr2:76546369-76546370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547867218	chr2:76546372-76546373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561163678	chr2:76546376-76546377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542751064	chr2:76549638-76549639	Enhancers	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76544600-76546000	Weak transcription	Fetal Heart	heart
2	chr2:76546000-76546400	Enhancers	Fetal Heart	heart
3	chr2:76549600-76551200	Enhancers	Fetal Brain Male	brain
4	chr2:76550200-76551200	Enhancers	Fetal Brain Female	brain
5	chr2:76550600-76551000	Enhancers	Hela-S3	cervix
6	chr2:76551200-76552800	Weak transcription	Fetal Brain Male	brain
7	chr2:76552800-76553000	Enhancers	Fetal Brain Male	brain
8	chr2:76557000-76557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:76577800-76578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:76578400-76579200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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