Variant report

Variant	nsv966542
Chromosome Location	chr4:125528212-125539843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 503 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552950462	chr4:125528224-125528225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564746284	chr4:125528230-125528231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368684336	chr4:125528262-125528263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201601881	chr4:125528264-125528265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529551363	chr4:125528268-125528269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182632735	chr4:125528283-125528284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550513460	chr4:125528365-125528366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568878083	chr4:125528383-125528384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536301927	chr4:125528406-125528407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs313899	chr4:125528441-125528442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368008515	chr4:125528621-125528622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10518434	chr4:125528660-125528661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533735513	chr4:125528682-125528683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185905217	chr4:125528761-125528762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35489103	chr4:125528785-125528786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555666282	chr4:125528789-125528790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577051475	chr4:125528793-125528794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569361413	chr4:125528794-125528795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191206864	chr4:125528832-125528833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11735627	chr4:125528848-125528849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540766119	chr4:125528855-125528856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183294559	chr4:125528885-125528886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187624968	chr4:125528955-125528956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192012713	chr4:125528979-125528980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147354407	chr4:125529025-125529026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546402866	chr4:125529081-125529082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564783079	chr4:125529091-125529092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183091822	chr4:125529122-125529123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188076007	chr4:125529135-125529136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562466836	chr4:125529151-125529152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192360077	chr4:125529186-125529187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35994875	chr4:125529226-125529227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184645605	chr4:125529311-125529312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577753253	chr4:125529338-125529339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11728357	chr4:125529394-125529395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34071234	chr4:125529425-125529426	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373725735	chr4:125529431-125529432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551918862	chr4:125529471-125529472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546123368	chr4:125529500-125529501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188145783	chr4:125529511-125529512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553277292	chr4:125529519-125529520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143411564	chr4:125529539-125529540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556174571	chr4:125529540-125529541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574821777	chr4:125529686-125529687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535826111	chr4:125529701-125529702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs41381944	chr4:125529705-125529706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368735735	chr4:125529719-125529720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572536936	chr4:125529749-125529750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530804379	chr4:125529774-125529775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192622687	chr4:125529778-125529779	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125506000-125538800	Weak transcription	Ovary	ovary
2	chr4:125518400-125538800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:125522800-125539200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125523800-125552800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:125524600-125538600	Weak transcription	Lung	lung
6	chr4:125524800-125546000	Weak transcription	HUVEC	blood vessel
7	chr4:125524800-125553000	Weak transcription	HSMMtube	muscle
8	chr4:125526200-125539400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:125526400-125545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:125526800-125529000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:125529000-125529200	Enhancers	Colon Smooth Muscle	Colon
12	chr4:125529000-125530200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:125529200-125530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:125530200-125530600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:125530200-125531000	Enhancers	NHEK	skin
16	chr4:125530200-125532000	Enhancers	HMEC	breast
17	chr4:125530600-125532000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:125530600-125532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:125530600-125532200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:125530600-125532200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:125530800-125531200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:125530800-125531400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:125530800-125531600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:125530800-125532000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:125531000-125531400	Enhancers	Colon Smooth Muscle	Colon
26	chr4:125531000-125531400	Flanking Active TSS	NHEK	skin
27	chr4:125531000-125531600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:125531000-125531800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:125531200-125531600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:125531400-125532000	Enhancers	NHEK	skin
31	chr4:125531600-125531800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:125531600-125532000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:125531800-125538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:125531800-125544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:125532000-125539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:125535200-125538600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:125536000-125546000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:125536600-125538800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:125536600-125552600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:125537200-125546000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:125537800-125539600	Weak transcription	Fetal Lung	lung
42	chr4:125538600-125539200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:125538600-125539200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:125538600-125539200	ZNF genes & repeats	Lung	lung
45	chr4:125538600-125539600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:125538600-125539600	ZNF genes & repeats	Fetal Stomach	stomach
47	chr4:125538600-125540000	ZNF genes & repeats	Aorta	Aorta
48	chr4:125538800-125539000	ZNF genes & repeats	Ovary	ovary
49	chr4:125538800-125539400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr4:125538800-125540000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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