Variant report

Variant	esv12230
Chromosome Location	chr4:96304014-96304577
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	chr4:96301836..96304016-chr4:96307553..96310153,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10461128	chr4:96304039-96304040	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186669504	chr4:96304056-96304057	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78626943	chr4:96304085-96304086	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566562839	chr4:96304093-96304094	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145474267	chr4:96304106-96304107	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10461129	chr4:96304120-96304121	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377045497	chr4:96304132-96304133	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10461172	chr4:96304133-96304134	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75734600	chr4:96304167-96304168	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7674643	chr4:96304168-96304169	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529911116	chr4:96304184-96304185	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138105524	chr4:96304189-96304190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377175595	chr4:96304213-96304214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556697160	chr4:96304220-96304221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114578917	chr4:96304242-96304243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532913693	chr4:96304281-96304282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571722559	chr4:96304326-96304327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138471398	chr4:96304414-96304415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55899427	chr4:96304430-96304431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35068196	chr4:96304434-96304435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199822302	chr4:96304441-96304442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538632828	chr4:96304480-96304481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71583701	chr4:96304560-96304561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6419134	chr4:96304561-96304562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96285200-96334600	Weak transcription	Aorta	Aorta
2	chr4:96285800-96305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:96295800-96305400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:96296400-96316000	Weak transcription	Fetal Kidney	kidney
5	chr4:96299000-96305600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:96299000-96310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:96302400-96304200	Strong transcription	Fetal Lung	lung
8	chr4:96303000-96306400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:96303200-96309600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:96303400-96304200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:96303600-96304200	Enhancers	Brain Substantia Nigra	brain
12	chr4:96303800-96304200	Enhancers	Brain Angular Gyrus	brain
13	chr4:96303800-96304200	Enhancers	Brain Anterior Caudate	brain
14	chr4:96303800-96304200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:96303800-96304600	Enhancers	Brain Hippocampus Middle	brain
16	chr4:96304200-96307400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:96304200-96308400	Weak transcription	Brain Angular Gyrus	brain
18	chr4:96304200-96311600	Weak transcription	Brain Substantia Nigra	brain
19	chr4:96304200-96323000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:96304200-96333000	Weak transcription	Fetal Lung	lung

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