Variant report

Variant	nsv968053
Chromosome Location	chr4:125979924-125995803
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	chr4:125995681..125997232-chr4:126007680..126009180,2	MCF-7	breast:
2	chr19:50230259..50233124-chr4:125983014..125985860,2	K562	blood:

Extended variants
information (count: 452 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555936693	chr4:125980041-125980042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141417821	chr4:125980067-125980068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145265068	chr4:125980091-125980092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78178447	chr4:125980165-125980166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147606527	chr4:125980235-125980236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201599077	chr4:125980315-125980316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538270776	chr4:125980365-125980366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559296818	chr4:125980372-125980373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183555975	chr4:125980427-125980428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187700563	chr4:125980467-125980468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114053078	chr4:125980505-125980506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530776492	chr4:125980556-125980557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548970930	chr4:125980590-125980591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71583393	chr4:125980659-125980660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35399581	chr4:125980661-125980662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567594638	chr4:125980687-125980688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201185931	chr4:125980689-125980690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528776528	chr4:125980694-125980695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547306205	chr4:125980700-125980701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12506963	chr4:125980754-125980755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539266383	chr4:125980785-125980786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557557626	chr4:125980843-125980844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190698832	chr4:125980916-125980917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536997790	chr4:125980972-125980973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555420785	chr4:125981026-125981027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115434145	chr4:125981029-125981030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182938476	chr4:125981042-125981043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187448986	chr4:125981043-125981044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77818772	chr4:125981065-125981066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142086009	chr4:125981112-125981113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150101167	chr4:125981134-125981135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559345313	chr4:125981190-125981191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138385956	chr4:125981197-125981198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563588328	chr4:125981198-125981199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376268501	chr4:125981223-125981224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530937420	chr4:125981239-125981240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573036320	chr4:125981242-125981243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148834328	chr4:125981276-125981277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541623183	chr4:125981296-125981297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143443728	chr4:125981310-125981311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7694289	chr4:125981401-125981402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550869894	chr4:125981408-125981409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575369505	chr4:125981409-125981410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540208396	chr4:125981458-125981459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532556352	chr4:125981489-125981490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551156889	chr4:125981540-125981541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569739903	chr4:125981558-125981559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537156831	chr4:125981604-125981605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555532749	chr4:125981632-125981633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550225121	chr4:125981694-125981695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125980000-125980600	Enhancers	Brain Germinal Matrix	brain
2	chr4:125980200-125980400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:125980400-125983000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:125983000-125983600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:125983000-125984400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:125983200-125983600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:125983200-125983600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:125983400-125983600	Enhancers	Fetal Lung	lung
9	chr4:125983400-125984200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:125985200-125985600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:125985200-125986400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:125985600-125993400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:125986400-125987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:125991000-125991200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:125991200-125991800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:125991800-125992800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:125992000-125992800	Enhancers	Fetal Heart	heart
18	chr4:125992000-125992800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:125993400-125993600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:125995800-125996200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:125995800-125997600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links