Variant report

Variant	nsv1011118
Chromosome Location	chr2:53328397-53375220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53363717..53366241-chr2:53367995..53370681,2	K562	blood:
2	chr2:53363717..53366241-chr2:53367995..53370681,2	K562	blood:
3	chr2:53343545..53346407-chr2:53346971..53349149,2	MCF-7	breast:
4	chr2:53321528..53324381-chr2:53335170..53336730,2	MCF-7	breast:
5	chr2:53343545..53346407-chr2:53346971..53349149,2	MCF-7	breast:

Extended variants
information (count: 1873 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1873 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559610989	chr2:53328444-53328445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573395876	chr2:53328455-53328456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114031344	chr2:53328458-53328459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560841944	chr2:53328569-53328570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79425949	chr2:53328570-53328571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28397723	chr2:53328576-53328577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372047917	chr2:53328586-53328587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563229640	chr2:53328606-53328607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570188088	chr2:53328629-53328630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569303292	chr2:53328632-53328633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532141098	chr2:53328715-53328716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182529636	chr2:53328748-53328749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184912543	chr2:53328782-53328783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565949228	chr2:53328788-53328789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539181498	chr2:53328789-53328790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76975412	chr2:53328799-53328800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548335167	chr2:53328813-53328814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558410791	chr2:53328817-53328818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146533488	chr2:53328915-53328916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191177350	chr2:53328937-53328938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556937734	chr2:53328942-53328943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72797247	chr2:53328990-53328991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539434069	chr2:53328993-53328994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553420780	chr2:53329001-53329002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140029512	chr2:53329018-53329019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542073554	chr2:53329023-53329024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555888758	chr2:53329038-53329039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76096401	chr2:53329048-53329049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143633652	chr2:53329074-53329075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183843301	chr2:53329131-53329132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114489886	chr2:53329155-53329156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532177861	chr2:53329189-53329190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201806140	chr2:53329191-53329192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72797249	chr2:53329200-53329201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79166008	chr2:53329203-53329204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79013710	chr2:53329221-53329222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114609772	chr2:53329238-53329239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544398451	chr2:53329273-53329274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568198352	chr2:53329286-53329287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189205371	chr2:53329295-53329296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192024604	chr2:53329319-53329320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570592847	chr2:53329325-53329326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539472778	chr2:53329361-53329362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372353490	chr2:53329408-53329409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145865363	chr2:53329414-53329415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529208809	chr2:53329530-53329531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182941116	chr2:53329535-53329536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187531510	chr2:53329547-53329548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556176529	chr2:53329556-53329557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555782625	chr2:53329594-53329595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53326200-53330200	Weak transcription	A549	lung
2	chr2:53326200-53331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:53326800-53330200	Weak transcription	Hela-S3	cervix
4	chr2:53330200-53330400	Enhancers	A549	lung
5	chr2:53330200-53331800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:53330200-53332000	Enhancers	HepG2	liver
7	chr2:53330200-53332200	Enhancers	Hela-S3	cervix
8	chr2:53330400-53331400	Enhancers	Brain Germinal Matrix	brain
9	chr2:53330400-53331600	Flanking Active TSS	A549	lung
10	chr2:53330600-53330800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:53330600-53331000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:53330600-53332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:53330600-53332200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:53330600-53332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:53330600-53332400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:53330600-53332400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:53330600-53332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:53330800-53331200	Enhancers	Fetal Kidney	kidney
19	chr2:53330800-53331400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:53330800-53332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:53330800-53332200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:53330800-53332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:53331000-53331600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:53331000-53331600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:53331000-53331600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:53331000-53331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:53331000-53331800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:53331000-53332200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:53331000-53332400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:53331000-53332400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:53331000-53332400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:53331200-53331800	Enhancers	NHEK	skin
33	chr2:53331400-53331600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:53331400-53332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:53331400-53332200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:53331400-53332200	Enhancers	HSMMtube	muscle
37	chr2:53331400-53332400	Enhancers	HMEC	breast
38	chr2:53331600-53332200	Enhancers	A549	lung
39	chr2:53331600-53332400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:53331600-53337400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:53331800-53338000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:53332000-53332400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:53332200-53336800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:53332200-53337600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:53332400-53337400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:53332400-53337400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:53332400-53337600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:53332400-53338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:53332400-53340200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:53336800-53338400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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