Variant report

Variant	nsv1007281
Chromosome Location	chr2:184573763-184638716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184619481..184621680-chr2:184632982..184635630,2	K562	blood:
2	chr2:184604146..184606537-chr2:184783796..184786201,2	MCF-7	breast:
3	chr2:184619481..184621680-chr2:184632982..184635630,2	K562	blood:
4	chr2:184592363..184595863-chr2:184599299..184601380,3	K562	blood:
5	chr2:184592363..184595863-chr2:184599299..184601380,3	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13422535	chr2:184579433-184579434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570911935	chr2:184579456-184579457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539959261	chr2:184579459-184579460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182910082	chr2:184579472-184579473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62197054	chr2:184579516-184579517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187591057	chr2:184579546-184579547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528336932	chr2:184579562-184579563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146457498	chr2:184579565-184579566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140894710	chr2:184579566-184579567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12328722	chr2:184579574-184579575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557533255	chr2:184579580-184579581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561482307	chr2:184579582-184579583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577291261	chr2:184579588-184579589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77521078	chr2:184579589-184579590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193229038	chr2:184579600-184579601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573600237	chr2:184579621-184579622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542498528	chr2:184579622-184579623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17714601	chr2:184579652-184579653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76880746	chr2:184579662-184579663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28587374	chr2:184579760-184579761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541236126	chr2:184579787-184579788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557608859	chr2:184605013-184605014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371375258	chr2:184605033-184605034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148679671	chr2:184605069-184605070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374011474	chr2:184605120-184605121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577822736	chr2:184605123-184605124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369124072	chr2:184605129-184605130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10182705	chr2:184605136-184605137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540284933	chr2:184605156-184605157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13024978	chr2:184605157-184605158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142294203	chr2:184605178-184605179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10206407	chr2:184605183-184605184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1454058	chr2:184605190-184605191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142848373	chr2:184605209-184605210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146785895	chr2:184605233-184605234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531057390	chr2:184605235-184605236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544220042	chr2:184605240-184605241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544779829	chr2:184605254-184605255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532295487	chr2:184605311-184605312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144091329	chr2:184605313-184605314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373747628	chr2:184605315-184605316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549302551	chr2:184605349-184605350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565981487	chr2:184605358-184605359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78639982	chr2:184605374-184605375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71430115	chr2:184613604-184613605	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs71430116	chr2:184613612-184613613	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs58388666	chr2:184613642-184613643	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs192136142	chr2:184613650-184613651	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs10171201	chr2:184613736-184613737	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184504153	chr2:184613758-184613759	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184579400-184579800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:184605000-184605400	Enhancers	Fetal Heart	heart
3	chr2:184613600-184613800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:184627400-184629200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:184627600-184628800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:184627600-184629000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:184627600-184629000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:184628000-184628800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:184628000-184628800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:184628000-184629000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:184628000-184629000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:184628200-184628600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:184628400-184628800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:184634800-184635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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