Variant report

Variant	esv3344961
Chromosome Location	chr2:110406064-110406432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573477692	chr2:110406081-110406082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369643381	chr2:110406099-110406100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542484089	chr2:110406111-110406112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567741860	chr2:110406121-110406122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369995809	chr2:110406192-110406193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543744675	chr2:110406229-110406230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35091425	chr2:110406230-110406231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529698844	chr2:110406246-110406247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543584841	chr2:110406273-110406274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188973449	chr2:110406285-110406286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532185439	chr2:110406288-110406289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552095407	chr2:110406312-110406313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559465138	chr2:110406317-110406318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58149954	chr2:110406320-110406321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191802344	chr2:110406356-110406357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568146787	chr2:110406357-110406358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28505331	chr2:110406422-110406423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110400600-110406600	Enhancers	Placenta	Placenta
2	chr2:110402600-110406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:110403000-110407200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:110403000-110407600	Weak transcription	Stomach Mucosa	stomach
5	chr2:110403800-110408200	Enhancers	HepG2	liver
6	chr2:110403800-110413200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:110404000-110407600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:110404000-110409400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:110405200-110406600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:110405800-110407600	Weak transcription	NHEK	skin
11	chr2:110405800-110412000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:110406000-110406200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:110406000-110406400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:110406000-110406600	Enhancers	Osteobl	bone
15	chr2:110406000-110409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:110406000-110409800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:110406000-110416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:110406000-110420400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:110406200-110409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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