Variant report

Variant	esv3419540
Chromosome Location	chr4:79464373-79464555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79463978..79466119-chr4:79474806..79476481,2	K562	blood:
2	chr4:79463304..79464850-chr4:79465136..79467888,2	K562	blood:
3	chr4:79464026..79467254-chr4:79471898..79474362,3	MCF-7	breast:
4	chr4:79463825..79467444-chr4:79478158..79482300,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138772	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3811747	chr4:79464432-79464433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542949359	chr4:79464500-79464501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
2	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
4	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:79440600-79465800	Weak transcription	Lung	lung
7	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
8	chr4:79442400-79465600	Weak transcription	Fetal Stomach	stomach
9	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
10	chr4:79453400-79467200	Weak transcription	Placenta	Placenta
11	chr4:79455400-79464400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:79456000-79464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:79456400-79464600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:79456400-79471200	Weak transcription	Fetal Kidney	kidney
15	chr4:79456600-79464400	Weak transcription	Pancreas	Pancrea
16	chr4:79456800-79464600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:79457000-79471200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:79458600-79471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:79461800-79466000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:79462000-79464400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:79462200-79467200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:79462200-79468800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:79462600-79467800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79463000-79466000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:79463000-79466200	Enhancers	Fetal Heart	heart
26	chr4:79463000-79467600	Enhancers	HMEC	breast
27	chr4:79463000-79468000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:79463000-79468400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79463000-79472200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:79463200-79465600	Enhancers	Osteobl	bone
31	chr4:79463200-79466400	Weak transcription	HepG2	liver
32	chr4:79463200-79467600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:79463200-79470800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:79463400-79465200	Enhancers	HSMMtube	muscle
35	chr4:79463400-79465200	Enhancers	NHEK	skin
36	chr4:79463400-79467800	Enhancers	NHDF-Ad	bronchial
37	chr4:79463400-79467800	Enhancers	NHLF	lung
38	chr4:79463400-79468000	Enhancers	Hela-S3	cervix
39	chr4:79463600-79464800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:79463600-79466600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:79463600-79471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:79463600-79472600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:79463800-79465000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:79463800-79465400	Enhancers	NH-A	brain
45	chr4:79463800-79466800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:79463800-79471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:79464000-79465200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:79464200-79464600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:79464200-79464800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:79464200-79465200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links