Variant report

Variant	nsv3019
Chromosome Location	chr2:167843982-167870745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:167859522..167861996-chr2:167862862..167865085,2	K562	blood:
2	chr2:167859522..167861996-chr2:167862862..167865085,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146403526	chr2:167844287-167844288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572659784	chr2:167844348-167844349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377637758	chr2:167844359-167844360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535292194	chr2:167844404-167844405	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs148589458	chr2:167844420-167844421	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77451910	chr2:167844489-167844490	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543969365	chr2:167844501-167844502	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs115836655	chr2:167844504-167844505	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577212763	chr2:167844505-167844506	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4493277	chr2:167844513-167844514	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142960334	chr2:167844528-167844529	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370668430	chr2:167844533-167844534	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188432773	chr2:167844574-167844575	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560762796	chr2:167844624-167844625	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529822618	chr2:167844659-167844660	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377431705	chr2:167844677-167844678	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549513903	chr2:167844678-167844679	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569642380	chr2:167844712-167844713	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538686129	chr2:167844731-167844732	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551889195	chr2:167844805-167844806	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374324563	chr2:167844810-167844811	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116446414	chr2:167844817-167844818	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535357362	chr2:167844820-167844821	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555287793	chr2:167844824-167844825	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568697330	chr2:167844895-167844896	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111327515	chr2:167844937-167844938	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76885965	chr2:167844945-167844946	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557466767	chr2:167844948-167844949	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374619695	chr2:167844998-167844999	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577274013	chr2:167844999-167845000	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533767651	chr2:167845024-167845025	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201989382	chr2:167845104-167845105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs71428959	chr2:167845168-167845169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567240500	chr2:167845173-167845174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183652395	chr2:167861242-167861243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535719532	chr2:167861324-167861325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189189924	chr2:167861380-167861381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34301687	chr2:167861433-167861434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575550587	chr2:167861451-167861452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78395941	chr2:167861457-167861458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546962767	chr2:167861523-167861524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16852845	chr2:167861568-167861569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369233320	chr2:167861591-167861592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529139838	chr2:167861597-167861598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558276104	chr2:167861608-167861609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548926742	chr2:167861627-167861628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182476553	chr2:167861655-167861656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531338065	chr2:167861675-167861676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551037454	chr2:167861772-167861773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141006107	chr2:167861799-167861800	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Seminomas	18059402	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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167844200-167844400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:167844400-167844600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:167844400-167844600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:167844400-167844800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:167844400-167845200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:167844600-167844800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:167844600-167845000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:167844600-167845000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:167844600-167845000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:167844600-167845000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:167844600-167845200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:167844800-167845200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:167844800-167845200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:167861200-167862000	Enhancers	Muscle Satellite Cultured Cells	--

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