Variant report

Variant	nsv1007391
Chromosome Location	chr4:95713679-95763860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
2	chr4:95743025..95745346-chr4:95749976..95751572,2	MCF-7	breast:
3	chr4:95743025..95745346-chr4:95749976..95751572,2	MCF-7	breast:
4	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
5	chr4:95763140..95765026-chr4:95770756..95772869,2	MCF-7	breast:

Extended variants
information (count: 1876 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1876 , 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	rs2510543	chr4:95713679-95713680	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376152393	chr4:95713709-95713710	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537671251	chr4:95713711-95713712	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551550160	chr4:95713748-95713749	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115154055	chr4:95713783-95713784	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539931664	chr4:95713792-95713793	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553022812	chr4:95713825-95713826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371173288	chr4:95713899-95713900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73838366	chr4:95713982-95713983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377323261	chr4:95713986-95713987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374900078	chr4:95713990-95713991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147401537	chr4:95714003-95714004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575892556	chr4:95714004-95714005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1472960	chr4:95714012-95714013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566193287	chr4:95714016-95714017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139127857	chr4:95714081-95714082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578077826	chr4:95714091-95714092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374648904	chr4:95714107-95714108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192621215	chr4:95714123-95714124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184697373	chr4:95714132-95714133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59859017	chr4:95714154-95714155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35752864	chr4:95714155-95714156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72599829	chr4:95714156-95714157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397752007	chr4:95714157-95714158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75938304	chr4:95714158-95714159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201887454	chr4:95714165-95714166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200175805	chr4:95714168-95714169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13106939	chr4:95714199-95714200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548976374	chr4:95714201-95714202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562817308	chr4:95714230-95714231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9884841	chr4:95714249-95714250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531624436	chr4:95714257-95714258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551345532	chr4:95714270-95714271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571441591	chr4:95714316-95714317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374815152	chr4:95714317-95714318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189095318	chr4:95714337-95714338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566605979	chr4:95714353-95714354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368555071	chr4:95714389-95714390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555333970	chr4:95714437-95714438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575510802	chr4:95714489-95714490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538537520	chr4:95714631-95714632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558136660	chr4:95714632-95714633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62316533	chr4:95714716-95714717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62316534	chr4:95714746-95714747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578133519	chr4:95715488-95715489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540812150	chr4:95715490-95715491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560315242	chr4:95715491-95715492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71601231	chr4:95715512-95715513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573775766	chr4:95715523-95715524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375744575	chr4:95715532-95715533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95710400-95732400	Weak transcription	Aorta	Aorta
2	chr4:95710600-95716600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:95712200-95719000	Weak transcription	A549	lung
4	chr4:95712800-95714000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:95713000-95713800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:95713400-95713800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:95713800-95725800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:95719000-95719200	Enhancers	A549	lung
9	chr4:95719200-95719600	Weak transcription	A549	lung
10	chr4:95719200-95720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:95719400-95719600	Enhancers	Ovary	ovary
12	chr4:95719400-95719800	Enhancers	Fetal Heart	heart
13	chr4:95719400-95720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:95719400-95720400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:95719600-95719800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:95719600-95720000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:95719600-95720000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:95719600-95720200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:95719600-95720400	Enhancers	A549	lung
20	chr4:95719600-95720600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:95719600-95720600	Enhancers	NH-A	brain
22	chr4:95719800-95720200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:95719800-95720200	Flanking Active TSS	Fetal Heart	heart
24	chr4:95719800-95720200	Enhancers	Osteobl	bone
25	chr4:95719800-95720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:95719800-95723400	Weak transcription	Ovary	ovary
27	chr4:95720000-95720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:95720000-95722000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:95720200-95720400	Enhancers	Fetal Heart	heart
30	chr4:95720400-95720600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:95720400-95722200	Weak transcription	Fetal Heart	heart
32	chr4:95720400-95722400	Weak transcription	A549	lung
33	chr4:95720400-95723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:95720400-95726200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:95721600-95723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:95722000-95723000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:95722200-95724200	Enhancers	Fetal Heart	heart
38	chr4:95722400-95722600	Enhancers	A549	lung
39	chr4:95722600-95723000	Weak transcription	A549	lung
40	chr4:95723000-95723800	Enhancers	A549	lung
41	chr4:95723000-95732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:95723200-95723600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:95723200-95723600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:95723400-95723600	Enhancers	Ovary	ovary
45	chr4:95723600-95726200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:95723600-95733600	Weak transcription	Ovary	ovary
47	chr4:95723800-95725600	Weak transcription	A549	lung
48	chr4:95723800-95726400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:95723800-95727200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:95724000-95724800	Enhancers	Dnd41	blood

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