Variant report

Variant	nsv968013
Chromosome Location	chr4:147971119-147974814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76274708	chr4:147971165-147971166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374250054	chr4:147971175-147971176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538770844	chr4:147971203-147971204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556990782	chr4:147971208-147971209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576577409	chr4:147971220-147971221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529998293	chr4:147971234-147971235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62341846	chr4:147971278-147971279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143605545	chr4:147971280-147971281	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372129612	chr4:147971313-147971314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532159813	chr4:147971328-147971329	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184462456	chr4:147971483-147971484	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189243050	chr4:147971485-147971486	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528211422	chr4:147971560-147971561	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182244701	chr4:147971654-147971655	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199595213	chr4:147971687-147971688	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547760992	chr4:147971694-147971695	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555662705	chr4:147971695-147971696	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567759576	chr4:147971702-147971703	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112217546	chr4:147971823-147971824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537346049	chr4:147971881-147971882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs72945770	chr4:147971929-147971930	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573838057	chr4:147971946-147971947	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185589842	chr4:147971950-147971951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189268856	chr4:147971951-147971952	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181048950	chr4:147971952-147971953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375596885	chr4:147971958-147971959	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573237678	chr4:147971968-147971969	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185656224	chr4:147971984-147971985	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190375577	chr4:147972009-147972010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150315351	chr4:147972067-147972068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10446782	chr4:147972073-147972074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544618295	chr4:147972133-147972134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559106203	chr4:147972153-147972154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116051108	chr4:147972166-147972167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181523353	chr4:147972230-147972231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148073195	chr4:147972241-147972242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545132629	chr4:147972311-147972312	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1437273	chr4:147972336-147972337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371385222	chr4:147972392-147972393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs17022409	chr4:147972444-147972445	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs17657337	chr4:147972454-147972455	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530385918	chr4:147972467-147972468	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140878332	chr4:147972514-147972515	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150149766	chr4:147972528-147972529	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540157002	chr4:147972561-147972562	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77904024	chr4:147972621-147972622	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567092179	chr4:147972657-147972658	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9999016	chr4:147972664-147972665	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62341847	chr4:147972670-147972671	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575819731	chr4:147972682-147972683	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147967800-147971800	Weak transcription	Fetal Kidney	kidney
2	chr4:147968400-147971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:147970400-147971200	Enhancers	Stomach Smooth Muscle	stomach
4	chr4:147970600-147971600	Enhancers	Aorta	Aorta
5	chr4:147970600-147972800	Enhancers	Psoas Muscle	Psoas
6	chr4:147970600-147972800	Enhancers	Hela-S3	cervix
7	chr4:147970800-147972200	Enhancers	Fetal Heart	heart
8	chr4:147970800-147972600	Enhancers	Fetal Lung	lung
9	chr4:147971000-147971200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:147971000-147971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:147971000-147971400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:147971000-147971800	Enhancers	Fetal Muscle Leg	muscle
13	chr4:147971000-147972000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:147971000-147972200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:147971000-147972200	Enhancers	NHLF	lung
16	chr4:147971000-147972400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:147971200-147971600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:147971200-147971600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:147971200-147971600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:147971200-147971800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:147971200-147971800	Enhancers	Fetal Stomach	stomach
22	chr4:147971200-147971800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:147971200-147972000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:147971400-147971800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:147971400-147971800	Active TSS	NHDF-Ad	bronchial
26	chr4:147971400-147972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:147971600-147971800	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:147971600-147972000	Enhancers	HMEC	breast
29	chr4:147971600-147972800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:147971600-147978400	Weak transcription	Aorta	Aorta
31	chr4:147971600-147978400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:147971800-147972000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:147971800-147972000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr4:147971800-147972000	Enhancers	NHDF-Ad	bronchial
35	chr4:147971800-147972000	Enhancers	NHEK	skin
36	chr4:147971800-147972400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:147971800-147972400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:147972000-147972600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:147972000-147973600	Weak transcription	HMEC	breast
40	chr4:147972000-147973600	Weak transcription	NHEK	skin
41	chr4:147972200-147972400	Flanking Active TSS	Fetal Heart	heart
42	chr4:147972200-147978000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:147972400-147972600	Active TSS	Fetal Heart	heart
44	chr4:147972400-147978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:147972600-147972800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:147972600-147973000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:147972800-147973800	Weak transcription	Hela-S3	cervix
48	chr4:147972800-147974200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:147972800-147975600	Weak transcription	Fetal Lung	lung
50	chr4:147973400-147978200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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