Variant report

Variant	nsv595353
Chromosome Location	chr4:122286068-122288886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs885103	chr4:122286068-122286069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535494562	chr4:122286113-122286114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549850592	chr4:122286130-122286131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533716550	chr4:122286144-122286145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546957713	chr4:122286157-122286158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566511011	chr4:122286195-122286196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535099023	chr4:122286292-122286293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56225168	chr4:122286341-122286342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186131058	chr4:122286361-122286362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79663809	chr4:122286364-122286365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537912928	chr4:122286383-122286384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190857764	chr4:122286384-122286385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577746592	chr4:122286403-122286404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183364913	chr4:122286404-122286405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573229983	chr4:122286410-122286411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13140266	chr4:122286460-122286461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs13140440	chr4:122286474-122286475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149302232	chr4:122286481-122286482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549510946	chr4:122286493-122286494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575353628	chr4:122286506-122286507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544264302	chr4:122286538-122286539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564370100	chr4:122286554-122286555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6534264	chr4:122286564-122286565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190578946	chr4:122286565-122286566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560633631	chr4:122286566-122286567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112434985	chr4:122286572-122286573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187872223	chr4:122286595-122286596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111787272	chr4:122286596-122286597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200755691	chr4:122286612-122286613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201485521	chr4:122286617-122286618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537974355	chr4:122286625-122286626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71602331	chr4:122286629-122286630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201545400	chr4:122286645-122286646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184139464	chr4:122286656-122286657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372480881	chr4:122286665-122286666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78709910	chr4:122286672-122286673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370923327	chr4:122286673-122286674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79043572	chr4:122286679-122286680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71602332	chr4:122286681-122286682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374343864	chr4:122286689-122286690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539377039	chr4:122286690-122286691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111086225	chr4:122286691-122286692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375762208	chr4:122286706-122286707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368191683	chr4:122286712-122286713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145138547	chr4:122286713-122286714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371023804	chr4:122286722-122286723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71629500	chr4:122286729-122286730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371653214	chr4:122286746-122286747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7691849	chr4:122286757-122286758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs66676102	chr4:122286766-122286767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122287600-122288400	Enhancers	Left Ventricle	heart

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