Variant report

Variant	nsv1020958
Chromosome Location	chr4:132527257-132573024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:
2	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
3	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
4	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
5	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
6	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:

Extended variants
information (count: 529 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146494275	chr4:132527271-132527272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140992398	chr4:132527279-132527280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564573263	chr4:132527300-132527301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1697364	chr4:132527341-132527342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62318308	chr4:132527342-132527343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570614985	chr4:132527351-132527352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185660795	chr4:132527359-132527360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556256168	chr4:132527376-132527377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143528626	chr4:132527402-132527403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535937062	chr4:132527431-132527432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189684679	chr4:132527435-132527436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528928068	chr4:132527437-132527438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556022832	chr4:132527548-132527549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180969176	chr4:132527561-132527562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35085027	chr4:132527565-132527566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72673628	chr4:132527614-132527615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34659672	chr4:132527621-132527622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs5000721	chr4:132527711-132527712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562131259	chr4:132527713-132527714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575108496	chr4:132527733-132527734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571526773	chr4:132527737-132527738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531336110	chr4:132527758-132527759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5000722	chr4:132527792-132527793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561589576	chr4:132527798-132527799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562977067	chr4:132527799-132527800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527492745	chr4:132527807-132527808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5000723	chr4:132527821-132527822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs5000724	chr4:132527833-132527834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186173113	chr4:132527845-132527846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5000725	chr4:132527886-132527887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555507233	chr4:132527959-132527960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113365640	chr4:132527961-132527962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183253917	chr4:132528013-132528014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75220723	chr4:132528018-132528019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575593569	chr4:132528045-132528046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34399681	chr4:132528051-132528052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116862191	chr4:132528055-132528056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34153894	chr4:132528066-132528067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578223943	chr4:132528104-132528105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543738393	chr4:132528106-132528107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555789086	chr4:132528112-132528113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35036029	chr4:132528148-132528149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1612519	chr4:132528196-132528197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35624173	chr4:132528202-132528203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188672339	chr4:132528249-132528250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146756189	chr4:132528254-132528255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11723962	chr4:132528327-132528328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564110340	chr4:132528338-132528339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369297646	chr4:132528395-132528396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191772269	chr4:132528414-132528415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132526000-132531200	Weak transcription	NHEK	skin
2	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:132526800-132530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:132529400-132529800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:132529800-132530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:132530200-132530600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:132530200-132532600	Enhancers	HMEC	breast
9	chr4:132530200-132532600	Enhancers	HUVEC	blood vessel
10	chr4:132530400-132532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:132530600-132531600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:132530800-132532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:132531200-132532600	Enhancers	NHEK	skin
14	chr4:132531600-132532200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:132531600-132532200	Enhancers	Hela-S3	cervix
16	chr4:132531600-132532400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:132531600-132532600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:132532000-132532400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:132532200-132532600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:132532600-132534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:132534600-132534800	Active TSS	GM12878-XiMat	blood
22	chr4:132534800-132535000	Flanking Active TSS	GM12878-XiMat	blood
23	chr4:132534800-132535200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:132534800-132535400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:132534800-132535600	Enhancers	Primary B cells from cord blood	blood
26	chr4:132535000-132535200	Enhancers	GM12878-XiMat	blood
27	chr4:132535200-132535400	Flanking Active TSS	GM12878-XiMat	blood
28	chr4:132535400-132535800	Enhancers	GM12878-XiMat	blood
29	chr4:132548800-132549200	Active TSS	Fetal Heart	heart
30	chr4:132551600-132553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:132553000-132553600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr4:132553200-132554400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr4:132553800-132554600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:132554200-132554400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:132556400-132557000	Active TSS	Fetal Heart	heart
36	chr4:132556600-132557000	Enhancers	Esophagus	oesophagus
37	chr4:132565800-132566200	Enhancers	Dnd41	blood

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