Variant report

Variant	esv3374101
Chromosome Location	chr4:103085029-103085357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103046022..103047684-chr4:103082977..103085283,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188397976	chr4:103085035-103085036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192860883	chr4:103085037-103085038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535078856	chr4:103085089-103085090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189328	chr4:103085133-103085134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116656861	chr4:103085142-103085143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151209440	chr4:103085159-103085160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556868395	chr4:103085170-103085171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574135437	chr4:103085203-103085204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183072953	chr4:103085204-103085205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368559487	chr4:103085209-103085210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372890701	chr4:103085272-103085273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187305644	chr4:103085326-103085327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191343395	chr4:103085327-103085328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114314216	chr4:103085328-103085329	Enhancers Weak 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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103084200-103085400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:103084200-103085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:103084200-103085800	Enhancers	K562	blood
4	chr4:103084200-103090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:103084600-103085200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:103084600-103085600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:103084800-103085200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:103084800-103085600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:103085200-103089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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