Variant report

Variant	nsv967952
Chromosome Location	chr4:120938383-120953526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120931283..120933611-chr4:120937604..120939144,2	MCF-7	breast:
2	chr4:120692868..120695733-chr4:120948622..120950761,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAD2L1-3	chr4:120943327-120943495	ucscGeneNc_uc003idk_1
2	lnc-MAD2L1-3	chr4:120939709-120939839	ucscGeneNc_uc003idk_1
3	lnc-MAD2L1-3	chr4:120945055-120945118	ucscGeneNc_uc003idk_1
4	lnc-MAD2L1-3	chr4:120941955-120941997	ucscGeneNc_uc003idk_1
5	lnc-MAD2L1-3	chr4:120941240-120941365	ucscGeneNc_uc003idk_1

No data

Extended variants
information (count: 124 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147376428	chr4:120939798-120939799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs183161103	chr4:120940004-120940005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143944962	chr4:120940008-120940009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17374008	chr4:120940014-120940015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150695984	chr4:120940049-120940050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139954752	chr4:120940113-120940114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17374036	chr4:120940133-120940134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149776951	chr4:120940175-120940176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144692332	chr4:120940181-120940182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371246494	chr4:120940248-120940249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548884334	chr4:120940250-120940251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541990696	chr4:120940271-120940272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139497958	chr4:120940299-120940300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531406356	chr4:120940324-120940325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150063110	chr4:120940328-120940329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144336979	chr4:120940405-120940406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375837425	chr4:120940407-120940408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533537396	chr4:120940420-120940421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559426918	chr4:120940434-120940435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146575602	chr4:120940515-120940516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567290061	chr4:120940528-120940529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536912213	chr4:120940533-120940534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186076191	chr4:120940548-120940549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576661986	chr4:120940575-120940576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140342273	chr4:120940576-120940577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3956507	chr4:120941284-120941285	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574490903	chr4:120941300-120941301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs543454465	chr4:120941345-120941346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199595755	chr4:120941996-120941997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs185259718	chr4:120943415-120943416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs116258738	chr4:120943425-120943426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs137972685	chr4:120943461-120943462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs369035254	chr4:120943468-120943469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs144324588	chr4:120943800-120943801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116731625	chr4:120943828-120943829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568259408	chr4:120943893-120943894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537286715	chr4:120944019-120944020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148344509	chr4:120944039-120944040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141593148	chr4:120944081-120944082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150901697	chr4:120944108-120944109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34171123	chr4:120944125-120944126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188842700	chr4:120944130-120944131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139562662	chr4:120944141-120944142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181080856	chr4:120944157-120944158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562090292	chr4:120944246-120944247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186120370	chr4:120944258-120944259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544512742	chr4:120944267-120944268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144176845	chr4:120944316-120944317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76010331	chr4:120944324-120944325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12649550	chr4:120944333-120944334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120940000-120940400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:120940000-120940600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:120940200-120940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120943800-120946800	Weak transcription	Psoas Muscle	Psoas

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