Variant report

Variant	nsv516207
Chromosome Location	chr4:125841892-125846118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs7356273	chr4:125841892-125841893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185892480	chr4:125841895-125841896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571852855	chr4:125841937-125841938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557427930	chr4:125841946-125841947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139560854	chr4:125841998-125841999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553417929	chr4:125842020-125842021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11475754	chr4:125842023-125842024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568488677	chr4:125842044-125842045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116610559	chr4:125842047-125842048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7356274	chr4:125842087-125842088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562038125	chr4:125842103-125842104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4834009	chr4:125842156-125842157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188499092	chr4:125842166-125842167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145792363	chr4:125842171-125842172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33971797	chr4:125842172-125842173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111877147	chr4:125842173-125842174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34858177	chr4:125842174-125842175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142759435	chr4:125842188-125842189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115339450	chr4:125842189-125842190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551911316	chr4:125842235-125842236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570126479	chr4:125842241-125842242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59952820	chr4:125842265-125842266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199717411	chr4:125842269-125842270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386679257	chr4:125842270-125842271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368945818	chr4:125842273-125842274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71583380	chr4:125842274-125842275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7356505	chr4:125842277-125842278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144870874	chr4:125842281-125842282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13435791	chr4:125842309-125842310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1909101	chr4:125842342-125842343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs571714197	chr4:125842362-125842363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180898674	chr4:125842368-125842369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557447171	chr4:125842382-125842383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540959765	chr4:125842431-125842432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1909100	chr4:125842481-125842482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs200947817	chr4:125842489-125842490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1483595	chr4:125842490-125842491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs10470922	chr4:125842539-125842540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs28627553	chr4:125842550-125842551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10518455	chr4:125842552-125842553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1483594	chr4:125842641-125842642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533377283	chr4:125842663-125842664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551769717	chr4:125842690-125842691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4464585	chr4:125842704-125842705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10470923	chr4:125842724-125842725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145241822	chr4:125842731-125842732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192036000	chr4:125842738-125842739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147370795	chr4:125842751-125842752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200632761	chr4:125842754-125842755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35045964	chr4:125842755-125842756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125835400-125844400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125835400-125844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:125843800-125844000	Enhancers	Lung	lung
4	chr4:125844400-125844800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:125844400-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:125844400-125845000	Enhancers	NHEK	skin
7	chr4:125844400-125845600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:125844600-125845000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:125844600-125845000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:125844600-125845000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:125844600-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:125844600-125845000	Enhancers	Fetal Heart	heart
13	chr4:125844600-125845000	Enhancers	HMEC	breast
14	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:125845000-125846800	Weak transcription	Fetal Heart	heart
16	chr4:125845600-125857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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