Variant report

Variant	esv3356901
Chromosome Location	chr4:121002749-121003259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575522005	chr4:121002783-121002784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571248295	chr4:121002799-121002800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1816005	chr4:121002803-121002804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547657143	chr4:121002815-121002816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564148336	chr4:121002830-121002831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567623328	chr4:121002833-121002834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532880076	chr4:121002835-121002836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562639516	chr4:121002914-121002915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34246339	chr4:121002920-121002921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9990631	chr4:121002992-121002993	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556382066	chr4:121003008-121003009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140945160	chr4:121003038-121003039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529469684	chr4:121003120-121003121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150200147	chr4:121003140-121003141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549195628	chr4:121003149-121003150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111282190	chr4:121003198-121003199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577026343	chr4:121003201-121003202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138889194	chr4:121003242-121003243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112400167	chr4:121003243-121003244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541804309	chr4:121003244-121003245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120989400-121012600	Weak transcription	Aorta	Aorta
2	chr4:121000400-121007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:121002200-121007000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:121002400-121004600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:121002600-121003800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:121002600-121004800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:121002800-121003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:121002800-121003800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:121002800-121003800	Enhancers	Brain Hippocampus Middle	brain
10	chr4:121002800-121004000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:121002800-121004000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:121002800-121004200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:121002800-121004600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:121002800-121004600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:121003000-121003400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:121003000-121003400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:121003000-121003400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:121003000-121003400	Enhancers	Brain Angular Gyrus	brain
19	chr4:121003000-121003800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:121003000-121003800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:121003000-121003800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:121003000-121003800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:121003000-121004000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:121003000-121004000	Enhancers	Brain Substantia Nigra	brain
25	chr4:121003200-121003800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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