Variant report

Variant	nsv1006907
Chromosome Location	chr2:57394583-57407650
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	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
2	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:

Extended variants
information (count: 335 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572034758	chr2:57395406-57395407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562586496	chr2:57395457-57395458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186283699	chr2:57395471-57395472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17190856	chr2:57395479-57395480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564911489	chr2:57395558-57395559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77341680	chr2:57395563-57395564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547319155	chr2:57395611-57395612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369908389	chr2:57395622-57395623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190990327	chr2:57395645-57395646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529508223	chr2:57395648-57395649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182024492	chr2:57395656-57395657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74359912	chr2:57395660-57395661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561374098	chr2:57395708-57395709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538003944	chr2:57395798-57395799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551743841	chr2:57395854-57395855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556897403	chr2:57395867-57395868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533791513	chr2:57395877-57395878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573632004	chr2:57395887-57395888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17190884	chr2:57395905-57395906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556131280	chr2:57395939-57395940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185984723	chr2:57395944-57395945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17798624	chr2:57395966-57395967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575349608	chr2:57396027-57396028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5831449	chr2:57396070-57396071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59129364	chr2:57396071-57396072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398060210	chr2:57396081-57396082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190661722	chr2:57396098-57396099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540892127	chr2:57396099-57396100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144830425	chr2:57396108-57396109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552236988	chr2:57396141-57396142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199763431	chr2:57396191-57396192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146116884	chr2:57396196-57396197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377323420	chr2:57396197-57396198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35674318	chr2:57396198-57396199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs70955039	chr2:57396199-57396200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569987027	chr2:57398404-57398405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187043763	chr2:57398443-57398444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370302140	chr2:57398457-57398458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190672494	chr2:57398458-57398459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180677464	chr2:57398480-57398481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568042447	chr2:57398492-57398493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537189066	chr2:57398495-57398496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2113597	chr2:57398519-57398520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558792216	chr2:57398570-57398571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570113515	chr2:57398574-57398575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538914937	chr2:57398578-57398579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558838353	chr2:57398630-57398631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572438957	chr2:57398665-57398666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534883122	chr2:57398689-57398690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555193169	chr2:57398717-57398718	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:57398400-57398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:57399000-57401600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:57402800-57403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:57405200-57405600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:57405600-57406800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:57406000-57406800	Enhancers	HUVEC	blood vessel
9	chr2:57406600-57407600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:57406600-57410000	Enhancers	HMEC	breast
11	chr2:57406600-57410200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:57406600-57410400	Enhancers	NHEK	skin
13	chr2:57406600-57410800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:57406800-57407200	Enhancers	NHDF-Ad	bronchial
15	chr2:57406800-57407400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:57406800-57407400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:57406800-57407600	Enhancers	HSMMtube	muscle
18	chr2:57406800-57407600	Flanking Active TSS	HUVEC	blood vessel
19	chr2:57406800-57407800	Enhancers	NH-A	brain
20	chr2:57406800-57411400	Enhancers	HSMM	muscle
21	chr2:57407000-57409000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:57407200-57409800	Weak transcription	NHDF-Ad	bronchial
23	chr2:57407400-57408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:57407400-57408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:57407400-57409400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:57407600-57408600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:57407600-57409800	Weak transcription	HSMMtube	muscle
28	chr2:57407600-57410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:57407600-57410600	Enhancers	HUVEC	blood vessel

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