Variant report

Variant	nsv521480
Chromosome Location	chr4:81941456-81943068
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	chr4:81942639..81943385-chr7:30269373..30270144,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6814223	chr4:81941456-81941457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138857930	chr4:81941458-81941459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374848231	chr4:81941472-81941473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79771569	chr4:81941527-81941528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17005020	chr4:81941528-81941529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559594830	chr4:81941554-81941555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549204594	chr4:81941578-81941579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528313882	chr4:81941619-81941620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550708728	chr4:81941632-81941633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200593422	chr4:81941668-81941669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567704722	chr4:81941680-81941681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371771549	chr4:81941692-81941693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564427181	chr4:81941695-81941696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375716850	chr4:81941697-81941698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145642897	chr4:81941733-81941734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549778412	chr4:81941741-81941742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569752617	chr4:81941758-81941759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371197753	chr4:81941761-81941762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529230099	chr4:81941770-81941771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73831255	chr4:81941841-81941842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566355148	chr4:81941895-81941896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534906716	chr4:81941896-81941897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546981259	chr4:81941932-81941933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555421834	chr4:81942048-81942049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572144581	chr4:81942053-81942054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558300690	chr4:81942110-81942111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534817020	chr4:81942120-81942121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75882173	chr4:81942135-81942136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557071253	chr4:81942196-81942197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573725708	chr4:81942210-81942211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs141983066	chr4:81942218-81942219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370228944	chr4:81942244-81942245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143334402	chr4:81942254-81942255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs58129258	chr4:81942261-81942262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs578162848	chr4:81942295-81942296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181013870	chr4:81942308-81942309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184994329	chr4:81942334-81942335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs59021208	chr4:81942406-81942407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188680193	chr4:81942438-81942439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557501329	chr4:81942496-81942497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77646366	chr4:81942526-81942527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs58713718	chr4:81942547-81942548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529291203	chr4:81942602-81942603	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542778079	chr4:81942641-81942642	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146299320	chr4:81942669-81942670	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559480958	chr4:81942674-81942675	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79478926	chr4:81942676-81942677	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551769141	chr4:81942739-81942740	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181242643	chr4:81942740-81942741	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs72868561	chr4:81942838-81942839	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81939800-81942000	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr4:81939800-81943000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:81940000-81944200	Enhancers	Fetal Intestine Large	intestine
4	chr4:81940800-81944200	Enhancers	Fetal Intestine Small	intestine
5	chr4:81941000-81942400	Enhancers	Small Intestine	intestine
6	chr4:81941400-81941600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:81941400-81941800	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:81941400-81942200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:81941800-81943200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:81942000-81942600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:81942600-81942800	Enhancers	Fetal Lung	lung
12	chr4:81942600-81943200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:81942600-81943200	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:81942600-81943800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:81942800-81943400	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:81942800-81943600	Enhancers	Stomach Mucosa	stomach
17	chr4:81942800-81944000	Enhancers	Colon Smooth Muscle	Colon
18	chr4:81943000-81943600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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