Variant report

Variant	nsv523624
Chromosome Location	chr2:125099924-125112975
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	chr2:125097769..125099451-chr2:125102621..125104236,2	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541468773	chr2:125101032-125101033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530555969	chr2:125101041-125101042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561714102	chr2:125101117-125101118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527633530	chr2:125101159-125101160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547265588	chr2:125101181-125101182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550383952	chr2:125101211-125101212	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558175407	chr2:125101221-125101222	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147947367	chr2:125101249-125101250	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539097588	chr2:125101286-125101287	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567328116	chr2:125101287-125101288	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570064796	chr2:125101293-125101294	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75088954	chr2:125101306-125101307	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549157509	chr2:125101315-125101316	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs58610183	chr2:125101341-125101342	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs780046	chr2:125101357-125101358	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558504332	chr2:125101369-125101370	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150030030	chr2:125101439-125101440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186350923	chr2:125101450-125101451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557489157	chr2:125101458-125101459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371903140	chr2:125101471-125101472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189550613	chr2:125101523-125101524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541904808	chr2:125101592-125101593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555094734	chr2:125101594-125101595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571690040	chr2:125101600-125101601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540587314	chr2:125101628-125101629	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564059546	chr2:125101639-125101640	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs62171013	chr2:125101668-125101669	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533020357	chr2:125101673-125101674	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543255003	chr2:125101688-125101689	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552891503	chr2:125101691-125101692	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368579418	chr2:125101692-125101693	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529397833	chr2:125101743-125101744	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78679895	chr2:125101776-125101777	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549441907	chr2:125101810-125101811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566007550	chr2:125101815-125101816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144963668	chr2:125101823-125101824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551753001	chr2:125101905-125101906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571977755	chr2:125101937-125101938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537731677	chr2:125101938-125101939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557317673	chr2:125101995-125101996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567824041	chr2:125102021-125102022	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181684113	chr2:125102033-125102034	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555454670	chr2:125102052-125102053	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533870978	chr2:125102236-125102237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540636890	chr2:125102253-125102254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557323973	chr2:125102317-125102318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138241753	chr2:125104802-125104803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576326696	chr2:125104809-125104810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573568635	chr2:125104819-125104820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149588180	chr2:125104840-125104841	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125101000-125101200	Enhancers	Liver	Liver
2	chr2:125101200-125101400	Flanking Active TSS	Liver	Liver
3	chr2:125101400-125101600	Enhancers	Liver	Liver
4	chr2:125101600-125101800	Flanking Active TSS	Liver	Liver
5	chr2:125101800-125102000	Enhancers	Liver	Liver
6	chr2:125102000-125102200	Flanking Active TSS	Liver	Liver
7	chr2:125102200-125102400	Enhancers	Liver	Liver
8	chr2:125104800-125105200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:125104800-125105200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:125104800-125105400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:125105000-125105400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:125105200-125108800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:125108800-125109000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:125108800-125109600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:125109600-125109800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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