Variant report

Variant	nsv964260
Chromosome Location	chr4:142413497-142434363
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	chr4:142421998..142424894-chr4:142429511..142431178,2	MCF-7	breast:
2	chr4:142421998..142424894-chr4:142429511..142431178,2	MCF-7	breast:

Extended variants
information (count: 383 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548286577	chr4:142413523-142413524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529351008	chr4:142413535-142413536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185835710	chr4:142413539-142413540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370884560	chr4:142413540-142413541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79360052	chr4:142413560-142413561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558322014	chr4:142413561-142413562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570459992	chr4:142413587-142413588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148174679	chr4:142413590-142413591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375706560	chr4:142413605-142413606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147937158	chr4:142413612-142413613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141832582	chr4:142413627-142413628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10519602	chr4:142413650-142413651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542630164	chr4:142413652-142413653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145023883	chr4:142413688-142413689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576421277	chr4:142413731-142413732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544039501	chr4:142413746-142413747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565453747	chr4:142413797-142413798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577252081	chr4:142413848-142413849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191090915	chr4:142413892-142413893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560058940	chr4:142413904-142413905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551618813	chr4:142413937-142413938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138544733	chr4:142413957-142413958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563643981	chr4:142413997-142413998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529694454	chr4:142414056-142414057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138865749	chr4:142414060-142414061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563437304	chr4:142414272-142414273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530980791	chr4:142414291-142414292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530519456	chr4:142414348-142414349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374763917	chr4:142414360-142414361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141999235	chr4:142414484-142414485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182705660	chr4:142414497-142414498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534476486	chr4:142414593-142414594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546514742	chr4:142414614-142414615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568220051	chr4:142414636-142414637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188957636	chr4:142414678-142414679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554661084	chr4:142414692-142414693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576505718	chr4:142414732-142414733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537525797	chr4:142414738-142414739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559057722	chr4:142414779-142414780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367678661	chr4:142414789-142414790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114586758	chr4:142414822-142414823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546394579	chr4:142414828-142414829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547509664	chr4:142414829-142414830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146336897	chr4:142414843-142414844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560003552	chr4:142414845-142414846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182849021	chr4:142414886-142414887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575022536	chr4:142414903-142414904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541857560	chr4:142414920-142414921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550439130	chr4:142414930-142414931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563116634	chr4:142414932-142414933	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
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
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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142411000-142417800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142418400-142419400	Enhancers	GM12878-XiMat	blood
3	chr4:142421400-142421800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:142421800-142422200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:142422200-142423200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:142422200-142424400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:142422800-142423600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:142423000-142423600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:142423200-142423600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:142423200-142423600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:142423200-142424000	Enhancers	Adipose Nuclei	Adipose
12	chr4:142423400-142424000	Enhancers	NHDF-Ad	bronchial
13	chr4:142423600-142423800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:142423600-142423800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:142423800-142424000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:142424000-142424200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:142430400-142431400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr4:142431000-142431200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:142431000-142431200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr4:142431200-142431800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:142432200-142433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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