Variant report

Variant	nsv1017567
Chromosome Location	chr4:158561111-158591903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:158564345..158567387-chr4:158569401..158572214,3	MCF-7	breast:
2	chr4:158564345..158567387-chr4:158569401..158572214,3	MCF-7	breast:
3	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:
4	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561640652	chr4:158574257-158574258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181544522	chr4:158574269-158574270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6821900	chr4:158574310-158574311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560767474	chr4:158574320-158574321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138974802	chr4:158574357-158574358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2172016	chr4:158574372-158574373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1473501	chr4:158574381-158574382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531644936	chr4:158574430-158574431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186281774	chr4:158574439-158574440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568077609	chr4:158574504-158574505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535773421	chr4:158574587-158574588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547351667	chr4:158574588-158574589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565912244	chr4:158574608-158574609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1844645	chr4:158574620-158574621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1844644	chr4:158574621-158574622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557938693	chr4:158574642-158574643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4093461	chr4:158574670-158574671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576227114	chr4:158574682-158574683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4093460	chr4:158574691-158574692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537109940	chr4:158574714-158574715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191004631	chr4:158574724-158574725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149472141	chr4:158574771-158574772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570206137	chr4:158574794-158574795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78910091	chr4:158574814-158574815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200253819	chr4:158574830-158574831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542559573	chr4:158574847-158574848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4691429	chr4:158574860-158574861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs202151155	chr4:158574863-158574864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35298661	chr4:158574909-158574910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572662239	chr4:158574917-158574918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546081151	chr4:158574930-158574931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564309576	chr4:158574966-158574967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573998992	chr4:158574980-158574981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531704874	chr4:158574988-158574989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549845820	chr4:158574989-158574990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561773941	chr4:158575004-158575005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529269017	chr4:158575059-158575060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567316286	chr4:158575067-158575068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4124427	chr4:158575167-158575168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565839100	chr4:158575192-158575193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368540605	chr4:158575249-158575250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377705764	chr4:158575317-158575318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563005695	chr4:158575318-158575319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551618440	chr4:158575338-158575339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531790770	chr4:158575361-158575362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534723485	chr4:158575362-158575363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201853052	chr4:158575384-158575385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148234881	chr4:158575386-158575387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112071515	chr4:158575388-158575389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398064179	chr4:158575390-158575391	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158574200-158577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:158575200-158575400	Enhancers	Brain Hippocampus Middle	brain
3	chr4:158575400-158576400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:158575600-158577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:158576000-158576200	Enhancers	Brain Anterior Caudate	brain
6	chr4:158576000-158577000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:158576200-158576600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:158576200-158576600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:158576200-158576600	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr4:158576200-158576800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:158576200-158577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:158576200-158577000	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:158576200-158577400	Enhancers	Adipose Nuclei	Adipose
14	chr4:158576400-158576800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:158576400-158576800	Enhancers	Aorta	Aorta
16	chr4:158576400-158576800	Enhancers	Brain Angular Gyrus	brain
17	chr4:158576400-158576800	Enhancers	Brain Hippocampus Middle	brain
18	chr4:158576400-158576800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:158576600-158576800	Enhancers	Brain Anterior Caudate	brain
20	chr4:158585400-158586600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:158585600-158586000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:158585600-158586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:158586200-158586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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