Variant report

Variant	nsv978925
Chromosome Location	chr2:56497527-56504097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56493299..56495631-chr2:56495862..56498685,2	K562	blood:
2	chr2:56496763..56498267-chr2:56498962..56500465,2	K562	blood:
3	chr2:56501627..56504616-chr2:56522910..56525116,2	K562	blood:
4	chr2:56496763..56498267-chr2:56498962..56500465,2	K562	blood:
5	chr2:56497998..56500277-chr2:56521559..56523561,2	MCF-7	breast:
6	chr2:56495147..56497223-chr2:56498821..56501572,2	K562	blood:

Extended variants
information (count: 260 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531945588	chr2:56497547-56497548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34019306	chr2:56497594-56497595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551673532	chr2:56497600-56497601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551683295	chr2:56497608-56497609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571192772	chr2:56497622-56497623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191141700	chr2:56497629-56497630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547545868	chr2:56497655-56497656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111320384	chr2:56497672-56497673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183396909	chr2:56497765-56497766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375566977	chr2:56497840-56497841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146147712	chr2:56497849-56497850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569614873	chr2:56497850-56497851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563024864	chr2:56497909-56497910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538602048	chr2:56497956-56497957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558912134	chr2:56497971-56497972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572321110	chr2:56497979-56497980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534820521	chr2:56497991-56497992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79280718	chr2:56498015-56498016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574096788	chr2:56498020-56498021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543091889	chr2:56498062-56498063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562808058	chr2:56498066-56498067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375833637	chr2:56498075-56498076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186652874	chr2:56498081-56498082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544955636	chr2:56498157-56498158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140143402	chr2:56498190-56498191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142413027	chr2:56498226-56498227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34848805	chr2:56498246-56498247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533777579	chr2:56498276-56498277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547634919	chr2:56498277-56498278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368265138	chr2:56498289-56498290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191954918	chr2:56498301-56498302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529783216	chr2:56498316-56498317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549861120	chr2:56498317-56498318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183693430	chr2:56498321-56498322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187804830	chr2:56498329-56498330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552160474	chr2:56498367-56498368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566019594	chr2:56498370-56498371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151290315	chr2:56498382-56498383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554496168	chr2:56498403-56498404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574591230	chr2:56498404-56498405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139518836	chr2:56498415-56498416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556623396	chr2:56498440-56498441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191111242	chr2:56498479-56498480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576089459	chr2:56498496-56498497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80095499	chr2:56498537-56498538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375229167	chr2:56498538-56498539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564936432	chr2:56498542-56498543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572436764	chr2:56498550-56498551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541307009	chr2:56498575-56498576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561386446	chr2:56498610-56498611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56486600-56505000	Weak transcription	Left Ventricle	heart
2	chr2:56487800-56506000	Weak transcription	Psoas Muscle	Psoas
3	chr2:56488000-56514000	Weak transcription	HSMM	muscle
4	chr2:56498200-56498600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:56498200-56498800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:56498400-56498800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:56498400-56498800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:56498400-56499200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:56501800-56504800	Weak transcription	Aorta	Aorta
10	chr2:56502800-56503000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:56503000-56503200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56503200-56513400	Weak transcription	Muscle Satellite Cultured Cells	--

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