Variant report

Variant	nsv880004
Chromosome Location	chr4:133093090-133236522
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	chr4:133116257..133118225-chr4:133445549..133447464,2	MCF-7	breast:

Extended variants
information (count: 1952 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1952 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547388707	chr4:133100410-133100411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570681851	chr4:133100472-133100473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539257862	chr4:133100509-133100510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202082009	chr4:133100520-133100521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547770513	chr4:133100606-133100607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569854608	chr4:133100635-133100636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373006160	chr4:133100650-133100651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535986802	chr4:133100728-133100729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190020167	chr4:133100745-133100746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9307673	chr4:133100747-133100748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75772476	chr4:133100781-133100782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10518606	chr4:133100800-133100801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs182697402	chr4:133100811-133100812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187563172	chr4:133100826-133100827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543757513	chr4:133100828-133100829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563582874	chr4:133100841-133100842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192737585	chr4:133100893-133100894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183653369	chr4:133100900-133100901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561420868	chr4:133100922-133100923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570827752	chr4:133101003-133101004	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189146697	chr4:133101006-133101007	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547320582	chr4:133101069-133101070	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs13137045	chr4:133101094-133101095	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139905580	chr4:133101095-133101096	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550083715	chr4:133101117-133101118	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10084791	chr4:133101140-133101141	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535616828	chr4:133101153-133101154	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs17048287	chr4:133101167-133101168	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566125548	chr4:133101177-133101178	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10084909	chr4:133101284-133101285	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10084910	chr4:133101294-133101295	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143491770	chr4:133101305-133101306	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145594924	chr4:133101317-133101318	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533639267	chr4:133101319-133101320	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557211799	chr4:133101331-133101332	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28372157	chr4:133101360-133101361	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542770144	chr4:133101375-133101376	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561629019	chr4:133101380-133101381	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146174020	chr4:133101427-133101428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10016986	chr4:133101449-133101450	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192019334	chr4:133101464-133101465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149148379	chr4:133101549-133101550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532769383	chr4:133101560-133101561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112962184	chr4:133101593-133101594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35268980	chr4:133101594-133101595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77882680	chr4:133101638-133101639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577620254	chr4:133101644-133101645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142270574	chr4:133101672-133101673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28444661	chr4:133101673-133101674	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565734677	chr4:133101677-133101678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133100400-133102200	Enhancers	NHEK	skin
2	chr4:133100600-133100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:133100800-133101000	Enhancers	NH-A	brain
4	chr4:133100800-133101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:133100800-133101800	Enhancers	HUVEC	blood vessel
6	chr4:133100800-133102000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:133100800-133102000	Enhancers	HMEC	breast
8	chr4:133101000-133101400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:133101000-133101400	Flanking Active TSS	NH-A	brain
10	chr4:133101000-133102200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:133101200-133101400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:133101400-133101600	Enhancers	NH-A	brain
13	chr4:133101400-133101800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:133101400-133102000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:133101400-133103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:133101600-133102000	Flanking Active TSS	NH-A	brain
17	chr4:133102000-133110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:133110000-133110200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:133123800-133125400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:133123800-133125400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:133124200-133125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:133124200-133125400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:133124400-133125000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:133124400-133125000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:133124600-133125200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:133139600-133140200	Enhancers	HMEC	breast
27	chr4:133144600-133145200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr4:133147000-133149000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr4:133147800-133148000	ZNF genes & repeats	Dnd41	blood
30	chr4:133147800-133149200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:133148000-133148800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:133148200-133148600	Enhancers	Hela-S3	cervix
33	chr4:133148200-133148800	Enhancers	HepG2	liver
34	chr4:133148600-133149200	Active TSS	Hela-S3	cervix
35	chr4:133148800-133149000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr4:133148800-133149000	Flanking Active TSS	HepG2	liver
37	chr4:133148800-133149200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:133148800-133149200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:133148800-133149200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:133148800-133149200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr4:133148800-133149200	Enhancers	Placenta	Placenta
42	chr4:133148800-133149200	Active TSS	Pancreas	Pancrea
43	chr4:133148800-133149200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr4:133148800-133149200	Weak transcription	Thymus	Thymus
45	chr4:133148800-133149200	Active TSS	A549	lung
46	chr4:133148800-133149200	Active TSS	HUVEC	blood vessel
47	chr4:133148800-133149200	Active TSS	NHLF	lung
48	chr4:133149000-133149200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr4:133149000-133149200	Active TSS	HepG2	liver
50	chr4:133149200-133149600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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