Variant report

Variant	nsv1008019
Chromosome Location	chr2:76542989-76586699
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: 674 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567255198	chr2:76543841-76543842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147100442	chr2:76543851-76543852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181234207	chr2:76543899-76543900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575810673	chr2:76543940-76543941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544705780	chr2:76543960-76543961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539605802	chr2:76543993-76543994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80295178	chr2:76544007-76544008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138470033	chr2:76544023-76544024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540517785	chr2:76544040-76544041	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561782352	chr2:76544086-76544087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573679502	chr2:76544131-76544132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544325602	chr2:76544194-76544195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577886151	chr2:76544209-76544210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185806543	chr2:76544220-76544221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373725813	chr2:76544265-76544266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143559950	chr2:76544282-76544283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560283864	chr2:76544296-76544297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190622628	chr2:76544323-76544324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4853224	chr2:76544360-76544361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567292202	chr2:76544377-76544378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150530271	chr2:76544413-76544414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549850770	chr2:76544417-76544418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4853225	chr2:76544421-76544422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538716575	chr2:76544436-76544437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183067044	chr2:76544528-76544529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551902821	chr2:76544543-76544544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139473886	chr2:76544584-76544585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115069282	chr2:76544591-76544592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555602837	chr2:76544597-76544598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573704208	chr2:76544627-76544628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374124374	chr2:76544733-76544734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556513444	chr2:76544801-76544802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186292326	chr2:76544833-76544834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192389439	chr2:76544870-76544871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560124810	chr2:76544941-76544942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182438482	chr2:76544966-76544967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10599833	chr2:76545003-76545004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572726094	chr2:76545004-76545005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200471210	chr2:76545005-76545006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67704981	chr2:76545013-76545014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201038793	chr2:76545020-76545021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13009875	chr2:76545031-76545032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187812882	chr2:76545064-76545065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192439397	chr2:76545089-76545090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531341368	chr2:76545116-76545117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549551260	chr2:76545130-76545131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571217702	chr2:76545170-76545171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13422380	chr2:76545193-76545194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs547450771	chr2:76545222-76545223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35193185	chr2:76545327-76545328	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76543800-76544000	Enhancers	Fetal Heart	heart
2	chr2:76543800-76544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:76544000-76544200	Flanking Active TSS	Fetal Heart	heart
4	chr2:76544000-76544400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:76544200-76544600	Enhancers	Fetal Heart	heart
6	chr2:76544600-76546000	Weak transcription	Fetal Heart	heart
7	chr2:76546000-76546400	Enhancers	Fetal Heart	heart
8	chr2:76549600-76551200	Enhancers	Fetal Brain Male	brain
9	chr2:76550200-76551200	Enhancers	Fetal Brain Female	brain
10	chr2:76550600-76551000	Enhancers	Hela-S3	cervix
11	chr2:76551200-76552800	Weak transcription	Fetal Brain Male	brain
12	chr2:76552800-76553000	Enhancers	Fetal Brain Male	brain
13	chr2:76557000-76557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:76577800-76578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:76578400-76579200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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