Variant report

Variant	esv3373418
Chromosome Location	chr4:56180321-56180639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574159613	chr4:56180343-56180344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575053739	chr4:56180370-56180371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572281403	chr4:56180385-56180386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181156400	chr4:56180390-56180391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554098784	chr4:56180398-56180399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577286348	chr4:56180479-56180480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140582919	chr4:56180499-56180500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73236129	chr4:56180525-56180526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576268471	chr4:56180536-56180537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62305070	chr4:56180556-56180557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185704710	chr4:56180560-56180561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562280332	chr4:56180565-56180566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560013668	chr4:56180566-56180567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527951578	chr4:56180580-56180581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145467894	chr4:56180631-56180632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56178800-56180800	Enhancers	Brain Hippocampus Middle	brain
2	chr4:56178800-56184200	Weak transcription	HUVEC	blood vessel
3	chr4:56179000-56181000	Enhancers	Brain Anterior Caudate	brain
4	chr4:56179400-56180400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:56180400-56180600	Enhancers	Fetal Intestine Large	intestine
6	chr4:56180400-56180800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:56180400-56180800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:56180400-56180800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:56180400-56180800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:56180400-56180800	Enhancers	Fetal Intestine Small	intestine
11	chr4:56180400-56181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:56180400-56181000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:56180400-56181000	Enhancers	Stomach Mucosa	stomach
14	chr4:56180600-56180800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:56180600-56180800	Enhancers	Brain Substantia Nigra	brain
16	chr4:56180600-56181000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:56180600-56181000	Enhancers	HUES64 Cell Line	embryonic stem cell

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