Variant report

Variant	esv1128126
Chromosome Location	chr3:98847166-98847167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11294684	chr3:98847166-98847167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397770334	chr3:98847167-98847168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98834400-98848200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:98844600-98851200	Enhancers	HSMM	muscle
3	chr3:98845600-98847600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:98846000-98847200	Weak transcription	HSMMtube	muscle
5	chr3:98846800-98847600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:98846800-98848000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:98846800-98848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:98846800-98849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:98846800-98849000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:98846800-98849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:98846800-98849000	Enhancers	HMEC	breast
12	chr3:98846800-98849400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:98847000-98847200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:98847000-98847200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:98847000-98847200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:98847000-98848200	Enhancers	NHLF	lung
17	chr3:98847000-98848400	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:98847000-98848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:98847000-98848800	Enhancers	HUVEC	blood vessel
20	chr3:98847000-98849200	Enhancers	Osteobl	bone
21	chr3:98847000-98849400	Enhancers	NH-A	brain
22	chr3:98847000-98849400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links