Variant report

Variant	nsv524023
Chromosome Location	chr4:79256273-79257710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs385366	chr4:79256273-79256274	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145002326	chr4:79256286-79256287	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs59209021	chr4:79256310-79256311	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566565486	chr4:79256323-79256324	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145886648	chr4:79256340-79256341	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113217965	chr4:79256353-79256354	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373912673	chr4:79256364-79256365	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575619076	chr4:79256405-79256406	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537265752	chr4:79256423-79256424	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556910547	chr4:79256439-79256440	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114856896	chr4:79256472-79256473	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74479046	chr4:79256475-79256476	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs13434837	chr4:79256481-79256482	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572879184	chr4:79256500-79256501	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533960795	chr4:79256515-79256516	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184417174	chr4:79256555-79256556	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372900028	chr4:79256620-79256621	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147763773	chr4:79256629-79256630	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56242523	chr4:79256647-79256648	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577298609	chr4:79256687-79256688	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116945375	chr4:79256716-79256717	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561196450	chr4:79256762-79256763	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141153968	chr4:79256764-79256765	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs388825	chr4:79256785-79256786	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370086920	chr4:79256855-79256856	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566774486	chr4:79256856-79256857	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367885	chr4:79256870-79256871	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576721336	chr4:79256885-79256886	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552252946	chr4:79256901-79256902	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569218337	chr4:79256908-79256909	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189740091	chr4:79256921-79256922	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs444500	chr4:79256940-79256941	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556919284	chr4:79256945-79256946	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567478373	chr4:79256954-79256955	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181283475	chr4:79256958-79256959	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553326664	chr4:79256974-79256975	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184370582	chr4:79257007-79257008	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545274681	chr4:79257013-79257014	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78487742	chr4:79257056-79257057	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5859615	chr4:79257057-79257058	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76269463	chr4:79257058-79257059	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79720033	chr4:79257059-79257060	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397994133	chr4:79257073-79257074	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558298368	chr4:79257093-79257094	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544680614	chr4:79257123-79257124	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369347514	chr4:79257181-79257182	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189219977	chr4:79257222-79257223	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143808812	chr4:79257233-79257234	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560605826	chr4:79257257-79257258	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572666181	chr4:79257315-79257316	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
3	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
4	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
8	chr4:79241600-79257600	Weak transcription	Left Ventricle	heart
9	chr4:79241800-79256400	Weak transcription	HepG2	liver
10	chr4:79247400-79257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:79247400-79257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:79250400-79257600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:79253200-79257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:79253200-79257800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:79253400-79257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:79253400-79257800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:79253400-79258600	Weak transcription	Placenta	Placenta
18	chr4:79253800-79257600	Weak transcription	Fetal Lung	lung
19	chr4:79253800-79264800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:79254000-79256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79254000-79256400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:79254600-79256400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:79254600-79256400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:79254600-79256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:79254600-79256400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:79254600-79256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:79254600-79256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:79254600-79257600	Weak transcription	Right Atrium	heart
29	chr4:79254600-79257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79254600-79257800	Weak transcription	NHDF-Ad	bronchial
31	chr4:79254600-79258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:79254600-79261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:79254800-79256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:79254800-79256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:79254800-79257400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:79254800-79257600	Weak transcription	Fetal Kidney	kidney
37	chr4:79255000-79256400	Weak transcription	Fetal Heart	heart
38	chr4:79255000-79256600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:79255000-79257400	Weak transcription	Fetal Intestine Small	intestine
40	chr4:79255600-79257800	Weak transcription	Right Ventricle	heart
41	chr4:79255800-79256600	ZNF genes & repeats	HSMMtube	muscle
42	chr4:79255800-79259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:79256200-79257200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:79256400-79256600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr4:79256400-79256600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:79256400-79256600	Enhancers	Aorta	Aorta
47	chr4:79256400-79256800	Genic enhancers	H1 Cell Line	embryonic stem cell
48	chr4:79256400-79256800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:79256400-79256800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:79256400-79258200	Enhancers	HUES48 Cell Line	embryonic stem cell

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