Variant report

Variant	esv3348061
Chromosome Location	chr4:74759910-74760131
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	chr4:74759338..74760983-chr4:74763696..74765672,2	K562	blood:
2	chr4:74758611..74762453-chr4:74763527..74766152,5	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28673400	chr4:74759912-74759913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570727875	chr4:74759939-74759940	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs573878	chr4:74759950-74759951	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567515185	chr4:74759974-74759975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs576870012	chr4:74759982-74759983	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs535898226	chr4:74759988-74759989	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs16850170	chr4:74760023-74760024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566035691	chr4:74760036-74760037	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs684080	chr4:74760044-74760045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557763709	chr4:74760059-74760060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs556269148	chr4:74760060-74760061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs576316948	chr4:74760067-74760068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs569932969	chr4:74760096-74760097	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs683671	chr4:74760097-74760098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533136389	chr4:74760104-74760105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369960699	chr4:74760108-74760109	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74752000-74760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:74757000-74760000	Enhancers	Fetal Intestine Large	intestine
3	chr4:74757200-74760000	Weak transcription	Fetal Kidney	kidney
4	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
5	chr4:74757400-74761000	Weak transcription	Stomach Mucosa	stomach
6	chr4:74757600-74760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:74757600-74760600	Weak transcription	Pancreas	Pancrea
8	chr4:74757600-74761200	Weak transcription	Spleen	Spleen
9	chr4:74758200-74760200	Weak transcription	Adipose Nuclei	Adipose
10	chr4:74758200-74760800	Weak transcription	Osteobl	bone
11	chr4:74758600-74760000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:74758600-74760000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:74758800-74761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:74759000-74760000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:74759000-74760200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:74759000-74761000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:74759200-74760200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:74759200-74760600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:74759200-74764600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:74759800-74760400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:74759800-74761200	Enhancers	Fetal Stomach	stomach
22	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74760000-74760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:74760000-74760200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:74760000-74760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:74760000-74760400	Enhancers	Fetal Kidney	kidney
27	chr4:74760000-74760800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:74760000-74760800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:74760000-74761400	Enhancers	NHLF	lung
30	chr4:74760000-74761600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:74760000-74762600	Enhancers	Fetal Intestine Small	intestine

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