Variant report

Variant	nsv818268
Chromosome Location	chr4:125837900-125846118
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	chr4:125833912..125836071-chr4:125836567..125839546,2	MCF-7	breast:

Extended variants
information (count: 347 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386679256	chr4:125837900-125837901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1601118	chr4:125837912-125837913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs550732942	chr4:125837930-125837931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569236528	chr4:125837971-125837972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536531466	chr4:125837983-125837984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187210264	chr4:125837988-125837989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140926300	chr4:125837998-125837999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567059878	chr4:125837999-125838000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192096188	chr4:125838004-125838005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375156070	chr4:125838075-125838076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183501026	chr4:125838087-125838088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534560642	chr4:125838170-125838171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187277058	chr4:125838173-125838174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566098770	chr4:125838237-125838238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577781787	chr4:125838358-125838359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79272587	chr4:125838398-125838399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28441499	chr4:125838401-125838402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575645056	chr4:125838422-125838423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191998935	chr4:125838425-125838426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs976540	chr4:125838456-125838457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs10018662	chr4:125838480-125838481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114206967	chr4:125838523-125838524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34497684	chr4:125838577-125838578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182651758	chr4:125838593-125838594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532447592	chr4:125838671-125838672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370442662	chr4:125838715-125838716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138192744	chr4:125838762-125838763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141872593	chr4:125838821-125838822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186971246	chr4:125838833-125838834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548601830	chr4:125838893-125838894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371187768	chr4:125838928-125838929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs976539	chr4:125838942-125838943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs546549174	chr4:125838943-125838944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571396539	chr4:125838970-125838971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10021315	chr4:125838973-125838974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557234797	chr4:125839000-125839001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192506115	chr4:125839047-125839048	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575506232	chr4:125839073-125839074	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146261847	chr4:125839129-125839130	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554582293	chr4:125839152-125839153	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573064842	chr4:125839176-125839177	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540294772	chr4:125839177-125839178	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564920202	chr4:125839190-125839191	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576962023	chr4:125839192-125839193	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139151527	chr4:125839195-125839196	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372296598	chr4:125839205-125839206	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184252543	chr4:125839254-125839255	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535897592	chr4:125839333-125839334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530238109	chr4:125839336-125839337	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548731663	chr4:125839346-125839347	Weak transcription Flanking Active TSS Enhancers	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:23 , 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	chr4:125838600-125839000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125838800-125839600	Enhancers	Osteobl	bone
5	chr4:125839000-125839200	Enhancers	Ovary	ovary
6	chr4:125839000-125839400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:125839400-125839800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:125839400-125839800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:125841000-125841200	Enhancers	Ovary	ovary
10	chr4:125843800-125844000	Enhancers	Lung	lung
11	chr4:125844400-125844800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:125844400-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:125844400-125845000	Enhancers	NHEK	skin
14	chr4:125844400-125845600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:125844600-125845000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:125844600-125845000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:125844600-125845000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:125844600-125845000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:125844600-125845000	Enhancers	Fetal Heart	heart
20	chr4:125844600-125845000	Enhancers	HMEC	breast
21	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:125845000-125846800	Weak transcription	Fetal Heart	heart
23	chr4:125845600-125857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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