Variant report

Variant	esv3440674
Chromosome Location	chr4:75132977-75133186
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	chr4:75131662..75133777-chr4:75138644..75141998,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534148525	chr4:75132991-75132992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541923824	chr4:75132993-75132994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367606424	chr4:75133003-75133004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190890685	chr4:75133008-75133009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559692507	chr4:75133021-75133022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11332631	chr4:75133022-75133023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537685185	chr4:75133023-75133024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74362509	chr4:75133024-75133025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371202224	chr4:75133025-75133026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374718552	chr4:75133026-75133027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13112877	chr4:75133032-75133033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13132545	chr4:75133042-75133043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13112893	chr4:75133051-75133052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13132554	chr4:75133055-75133056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183615336	chr4:75133057-75133058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532052069	chr4:75133078-75133079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200111752	chr4:75133088-75133089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7659389	chr4:75133151-75133152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541720775	chr4:75133182-75133183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75119800-75133200	Weak transcription	NHEK	skin
2	chr4:75119800-75148800	Weak transcription	Aorta	Aorta
3	chr4:75120000-75141200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:75124200-75133600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:75125200-75142600	Weak transcription	K562	blood
6	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart
7	chr4:75126200-75133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:75130000-75133400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:75130000-75133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:75130000-75140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:75131200-75133400	Weak transcription	Esophagus	oesophagus
12	chr4:75131400-75134800	Weak transcription	Psoas Muscle	Psoas
13	chr4:75131800-75134600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:75132000-75133400	Weak transcription	Osteobl	bone
15	chr4:75132000-75135000	Enhancers	HMEC	breast
16	chr4:75132200-75133200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:75132200-75157800	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:75132400-75133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:75132600-75133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:75132800-75133200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:75133000-75134800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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