Variant report

Variant	nsv962063
Chromosome Location	chr2:40205436-40263295
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	chr2:40248216..40251072-chr2:40272085..40274359,2	K562	blood:
2	chr2:40254887..40256636-chr2:40272268..40275019,2	K562	blood:

Extended variants
information (count: 3475 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3475 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374976332	chr2:40205450-40205451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542709076	chr2:40205452-40205453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541934053	chr2:40205487-40205488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534504224	chr2:40205507-40205508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114648190	chr2:40205527-40205528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566121780	chr2:40205538-40205539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528593899	chr2:40205540-40205541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75739495	chr2:40205555-40205556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72789188	chr2:40205559-40205560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570628644	chr2:40205563-40205564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532432468	chr2:40205571-40205572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530469234	chr2:40205577-40205578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532543991	chr2:40205587-40205588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536296968	chr2:40205595-40205596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548219532	chr2:40205607-40205608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547435773	chr2:40205628-40205629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566400923	chr2:40205639-40205640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533907000	chr2:40205671-40205672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372525609	chr2:40205700-40205701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368189646	chr2:40205725-40205726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59428383	chr2:40205741-40205742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200906143	chr2:40205747-40205748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4015726	chr2:40205749-40205750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4015727	chr2:40205751-40205752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2888640	chr2:40205753-40205754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370473885	chr2:40205769-40205770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10569829	chr2:40205770-40205771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553254379	chr2:40205801-40205802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557948365	chr2:40205802-40205803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145850217	chr2:40205854-40205855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368155683	chr2:40205863-40205864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538923227	chr2:40205892-40205893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372107773	chr2:40205923-40205924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536019230	chr2:40205930-40205931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72175139	chr2:40205942-40205943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182823108	chr2:40205967-40205968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575224933	chr2:40206011-40206012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202165571	chr2:40206038-40206039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201460979	chr2:40206039-40206040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70957137	chr2:40206046-40206047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200007542	chr2:40206063-40206064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532795236	chr2:40206064-40206065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186645097	chr2:40206080-40206081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36149895	chr2:40206085-40206086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201136102	chr2:40206089-40206090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34019241	chr2:40206107-40206108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191287232	chr2:40206109-40206110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202192907	chr2:40206148-40206149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374271849	chr2:40206149-40206150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148589180	chr2:40206202-40206203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40182000-40218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40203800-40209000	Weak transcription	Fetal Stomach	stomach
3	chr2:40204400-40206200	Weak transcription	Dnd41	blood
4	chr2:40204600-40209000	Weak transcription	Ovary	ovary
5	chr2:40208400-40209000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:40208400-40209200	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:40208400-40210000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40208600-40209800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40208800-40209000	Enhancers	NHDF-Ad	bronchial
10	chr2:40208800-40209200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:40208800-40209800	Enhancers	Colon Smooth Muscle	Colon
12	chr2:40209000-40209400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:40209000-40209600	Enhancers	Fetal Stomach	stomach
14	chr2:40209000-40209600	Enhancers	Ovary	ovary
15	chr2:40209600-40209800	Enhancers	NHDF-Ad	bronchial
16	chr2:40216800-40218200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40217000-40219200	Enhancers	Osteobl	bone
18	chr2:40217200-40218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40217200-40219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:40217400-40217600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:40217400-40219400	Enhancers	HSMM	muscle
22	chr2:40217600-40218600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:40217800-40219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40217800-40219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40217800-40219200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40217800-40219400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:40218000-40218400	Enhancers	HSMMtube	muscle
28	chr2:40218000-40219000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:40218000-40219400	Enhancers	NHDF-Ad	bronchial
30	chr2:40218200-40221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40218200-40222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:40218400-40218800	Weak transcription	HSMMtube	muscle
33	chr2:40218400-40219000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
35	chr2:40218600-40219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:40218600-40219000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:40218600-40220000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:40218800-40219000	Enhancers	HSMMtube	muscle
39	chr2:40218800-40219000	Enhancers	NHEK	skin
40	chr2:40219000-40220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:40219000-40223600	Weak transcription	HSMMtube	muscle
42	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:40219200-40221000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:40219200-40224400	Weak transcription	Osteobl	bone
45	chr2:40219400-40221000	Weak transcription	NHDF-Ad	bronchial
46	chr2:40219400-40221400	Weak transcription	HSMM	muscle
47	chr2:40219400-40221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:40220600-40220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:40220600-40221000	Weak transcription	NHEK	skin
50	chr2:40220800-40221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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