Variant report

Variant	esv2065041
Chromosome Location	chr3:141813831-141813834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 49 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149977736	chr3:141813831-141813832	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141761800-141819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:141763000-141820000	Weak transcription	Pancreas	Pancrea
3	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
4	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
5	chr3:141765000-141818800	Weak transcription	Primary B cells from cord blood	blood
6	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:141797600-141819600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:141797600-141823600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:141799600-141814600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:141803600-141814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:141804000-141819200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:141804000-141820800	Weak transcription	Left Ventricle	heart
13	chr3:141806200-141818600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:141807000-141817600	Weak transcription	Fetal Intestine Large	intestine
15	chr3:141807200-141817800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:141809000-141814200	Genic enhancers	Fetal Thymus	thymus
17	chr3:141809600-141814400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:141810800-141816200	Weak transcription	Thymus	Thymus
19	chr3:141811400-141816200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:141811600-141817400	Enhancers	Dnd41	blood

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