Variant report

Variant	nsv523918
Chromosome Location	chr2:185326251-185327680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:
2	chr2:185320111..185322063-chr2:185324941..185327547,2	K562	blood:
3	chr2:185326685..185328359-chr2:185333481..185335539,2	K562	blood:
4	chr2:185320111..185322626-chr2:185324313..185327547,4	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12693377	chr2:185326251-185326252	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193089847	chr2:185326253-185326254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185585493	chr2:185326290-185326291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546546457	chr2:185326314-185326315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71403976	chr2:185326403-185326404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs75860096	chr2:185326418-185326419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs398060865	chr2:185326421-185326422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111937446	chr2:185326450-185326451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1966770	chr2:185326455-185326456	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367890265	chr2:185326477-185326478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539738815	chr2:185326492-185326493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1966769	chr2:185326526-185326527	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570334953	chr2:185326530-185326531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569319605	chr2:185326552-185326553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534576590	chr2:185326592-185326593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376383393	chr2:185326637-185326638	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1992515	chr2:185326664-185326665	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574544464	chr2:185326666-185326667	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372725362	chr2:185326676-185326677	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377180215	chr2:185326682-185326683	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188866028	chr2:185326686-185326687	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557191720	chr2:185326752-185326753	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575538819	chr2:185326784-185326785	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192386017	chr2:185326805-185326806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368812753	chr2:185326825-185326826	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115813628	chr2:185326854-185326855	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573079765	chr2:185326859-185326860	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs141006812	chr2:185326876-185326877	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72893716	chr2:185326899-185326900	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368870839	chr2:185326936-185326937	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183748458	chr2:185327065-185327066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529334960	chr2:185327078-185327079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368454375	chr2:185327127-185327128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550706417	chr2:185327130-185327131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562719127	chr2:185327159-185327160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533381829	chr2:185327195-185327196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573321192	chr2:185327244-185327245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372655693	chr2:185327261-185327262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562599963	chr2:185327269-185327270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567125208	chr2:185327317-185327318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374722355	chr2:185327330-185327331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188067459	chr2:185327332-185327333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200464218	chr2:185327361-185327362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201074128	chr2:185327368-185327369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375310927	chr2:185327415-185327416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533260077	chr2:185327418-185327419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6733780	chr2:185327466-185327467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535523614	chr2:185327555-185327556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557128479	chr2:185327582-185327583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575429300	chr2:185327629-185327630	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185326000-185327000	Active TSS	K562	blood
2	chr2:185326600-185326800	Enhancers	Fetal Intestine Small	intestine
3	chr2:185326600-185327600	Enhancers	Fetal Intestine Large	intestine
4	chr2:185326800-185327400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:185326800-185327600	Enhancers	Liver	Liver
6	chr2:185327000-185327800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:185327400-185327800	Enhancers	Fetal Intestine Small	intestine
8	chr2:185327600-185328200	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr2:185327600-185328400	Flanking Active TSS	Liver	Liver
10	chr2:185327600-185328800	Enhancers	Rectal Mucosa Donor 31	rectum

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