Variant report

Variant	nsv438270
Chromosome Location	chr2:30255612-30268042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30262343..30264301-chr2:30266121..30269270,3	K562	blood:
2	chr2:30245669..30247743-chr2:30253958..30255753,2	K562	blood:
3	chr2:30262343..30264301-chr2:30266121..30269270,3	K562	blood:

Extended variants
information (count: 472 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12714296	chr2:30255612-30255613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533189059	chr2:30255627-30255628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143661672	chr2:30255631-30255632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74510879	chr2:30255641-30255642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80163195	chr2:30255660-30255661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138258900	chr2:30255739-30255740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541207470	chr2:30255755-30255756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80042076	chr2:30255788-30255789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530321980	chr2:30255852-30255853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185008409	chr2:30255870-30255871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142850036	chr2:30255903-30255904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531300770	chr2:30255988-30255989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34555994	chr2:30255995-30255996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72411558	chr2:30255996-30255997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13003029	chr2:30255997-30255998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144147656	chr2:30256025-30256026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571296929	chr2:30256028-30256029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373791642	chr2:30256039-30256040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190637531	chr2:30256042-30256043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533919841	chr2:30256052-30256053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184124648	chr2:30256058-30256059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186988233	chr2:30256068-30256069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200667701	chr2:30256075-30256076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376745297	chr2:30256082-30256083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556394764	chr2:30256083-30256084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191910090	chr2:30256116-30256117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183001239	chr2:30256139-30256140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140123078	chr2:30256164-30256165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572206053	chr2:30256166-30256167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141531336	chr2:30256167-30256168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187337092	chr2:30256180-30256181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574648163	chr2:30256208-30256209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191703453	chr2:30256216-30256217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182421499	chr2:30256251-30256252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150897747	chr2:30256257-30256258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551352195	chr2:30256294-30256295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372702186	chr2:30256296-30256297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556631759	chr2:30256300-30256301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11127254	chr2:30256303-30256304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34924305	chr2:30256344-30256345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371110456	chr2:30256349-30256350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554066986	chr2:30256447-30256448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567391705	chr2:30256520-30256521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536418459	chr2:30256535-30256536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549745805	chr2:30256550-30256551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7590437	chr2:30256594-30256595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538605068	chr2:30256608-30256609	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558904484	chr2:30256648-30256649	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371066002	chr2:30256701-30256702	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572638904	chr2:30256761-30256762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30253600-30257000	Weak transcription	Placenta	Placenta
2	chr2:30254400-30257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:30254400-30257000	Weak transcription	Esophagus	oesophagus
4	chr2:30254400-30263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30255400-30258200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:30256600-30257000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:30257000-30257400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:30257000-30257400	Enhancers	Placenta	Placenta
9	chr2:30257200-30257400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
10	chr2:30257400-30257600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:30257600-30259400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:30258200-30258400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:30258400-30258600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:30259400-30261600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:30261000-30261400	Enhancers	NHEK	skin
16	chr2:30261000-30261600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:30261200-30261600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30261200-30261600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:30261400-30261600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:30261400-30262400	Enhancers	Fetal Intestine Small	intestine
21	chr2:30261600-30263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:30261600-30267400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:30263000-30263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30263200-30263400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:30264200-30265000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30267400-30268200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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