Variant report

Variant	nsv9857
Chromosome Location	chr2:57305095-57318505
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	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
2	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190095675	chr2:57305160-57305161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528074002	chr2:57305183-57305184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369201280	chr2:57305207-57305208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531889559	chr2:57305227-57305228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372964955	chr2:57305239-57305240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551680890	chr2:57305247-57305248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147493252	chr2:57305269-57305270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183290028	chr2:57305279-57305280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553867904	chr2:57305285-57305286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548053207	chr2:57305287-57305288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547904314	chr2:57305293-57305294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373861501	chr2:57305296-57305297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567285584	chr2:57305315-57305316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11691347	chr2:57305317-57305318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556376263	chr2:57305320-57305321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569861626	chr2:57305352-57305353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371306707	chr2:57305377-57305378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373192420	chr2:57305382-57305383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188218635	chr2:57305409-57305410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs718351	chr2:57305425-57305426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536931225	chr2:57305434-57305435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77933802	chr2:57305475-57305476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191947357	chr2:57305478-57305479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527803102	chr2:57305510-57305511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1364527	chr2:57305521-57305522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529651544	chr2:57305533-57305534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543057370	chr2:57305572-57305573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563345263	chr2:57305591-57305592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183751970	chr2:57305628-57305629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs718350	chr2:57305640-57305641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35499579	chr2:57305645-57305646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565107124	chr2:57305663-57305664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553043511	chr2:57305667-57305668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187817719	chr2:57305690-57305691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192633016	chr2:57305702-57305703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35434274	chr2:57305783-57305784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28404689	chr2:57305796-57305797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183760952	chr2:57305875-57305876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13423285	chr2:57305901-57305902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186798062	chr2:57305961-57305962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367785950	chr2:57305975-57305976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538534165	chr2:57306050-57306051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558914315	chr2:57306126-57306127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192551364	chr2:57306149-57306150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535820897	chr2:57306151-57306152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11901902	chr2:57306208-57306209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184941028	chr2:57306217-57306218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189873327	chr2:57306228-57306229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543546925	chr2:57306232-57306233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563124808	chr2:57306239-57306240	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	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:57306800-57307400	Enhancers	A549	lung
3	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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