Variant report

Variant	esv2240939
Chromosome Location	chr4:79050499-79050949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192884695	chr4:79050540-79050541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558671445	chr4:79050541-79050542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561330770	chr4:79050578-79050579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530079528	chr4:79050586-79050587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546981551	chr4:79050625-79050626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137992984	chr4:79050631-79050632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185424246	chr4:79050638-79050639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371500955	chr4:79050651-79050652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115283641	chr4:79050703-79050704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60596658	chr4:79050721-79050722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs60638360	chr4:79050729-79050730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537340648	chr4:79050759-79050760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557016889	chr4:79050780-79050781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567563078	chr4:79050807-79050808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535828441	chr4:79050830-79050831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188679114	chr4:79050831-79050832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17002949	chr4:79050852-79050853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572566404	chr4:79050872-79050873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543323705	chr4:79050874-79050875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544735396	chr4:79050889-79050890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558703288	chr4:79050892-79050893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575478431	chr4:79050895-79050896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544878788	chr4:79050899-79050900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561382290	chr4:79050903-79050904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530425878	chr4:79050940-79050941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192417133	chr4:79050946-79050947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79042600-79052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79042800-79052600	Weak transcription	Left Ventricle	heart
3	chr4:79043000-79052600	Weak transcription	Psoas Muscle	Psoas
4	chr4:79047000-79050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:79047400-79050600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:79047400-79050800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:79047600-79050600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:79047600-79050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:79047600-79050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:79047600-79050800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:79047600-79051000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:79047600-79052400	Weak transcription	Fetal Heart	heart
13	chr4:79047600-79057200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:79047600-79057400	Weak transcription	Pancreas	Pancrea
15	chr4:79047800-79051000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:79048000-79050600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79048800-79050600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:79048800-79050800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:79050400-79051200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:79050400-79056800	Enhancers	HepG2	liver
21	chr4:79050600-79051000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:79050600-79051000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:79050600-79051200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:79050600-79051200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:79050600-79051800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:79050600-79051800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79050600-79053600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79050600-79053800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:79050800-79051200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:79050800-79051200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:79050800-79051200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:79050800-79051200	Enhancers	Fetal Intestine Large	intestine
33	chr4:79050800-79051400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:79050800-79051600	Enhancers	Fetal Intestine Small	intestine

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