Variant report

Variant	esv3326628
Chromosome Location	chr2:48818768-48819166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78296412	chr2:48818786-48818787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375052743	chr2:48818788-48818789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201493536	chr2:48818789-48818790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372629912	chr2:48818794-48818795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377466906	chr2:48818800-48818801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371015402	chr2:48818839-48818840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373971715	chr2:48818872-48818873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199992837	chr2:48818878-48818879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150862392	chr2:48818911-48818912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376653994	chr2:48818918-48818919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569579970	chr2:48818924-48818925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536670845	chr2:48818925-48818926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368840612	chr2:48818949-48818950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375236962	chr2:48818997-48818998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201096468	chr2:48819017-48819018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374051572	chr2:48819026-48819027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570537676	chr2:48819041-48819042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112995760	chr2:48819066-48819067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553580425	chr2:48819087-48819088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188791262	chr2:48819089-48819090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536191285	chr2:48819128-48819129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6753793	chr2:48819158-48819159	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
3	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:48799000-48825800	Weak transcription	HSMMtube	muscle
5	chr2:48804600-48824600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:48808400-48827600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:48808600-48821200	Weak transcription	Fetal Kidney	kidney
8	chr2:48808600-48834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:48808800-48821000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:48809000-48821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:48809000-48824400	Weak transcription	Left Ventricle	heart
12	chr2:48809600-48821000	Weak transcription	Aorta	Aorta
13	chr2:48809600-48827200	Weak transcription	Right Ventricle	heart
14	chr2:48809800-48828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:48812200-48828000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:48812400-48821000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:48812400-48822800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:48812400-48824000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:48812400-48824200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:48813600-48818800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:48813600-48828200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:48814000-48835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:48814200-48818800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:48814200-48822200	Weak transcription	Fetal Lung	lung
25	chr2:48814200-48834800	Weak transcription	Lung	lung
26	chr2:48815000-48826400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:48815200-48824000	Weak transcription	Fetal Stomach	stomach
28	chr2:48815400-48818800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:48815400-48821000	Weak transcription	Ovary	ovary
30	chr2:48815800-48824400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:48815800-48840200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:48816200-48822600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:48816200-48834800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:48816400-48824200	Weak transcription	Placenta	Placenta
35	chr2:48816400-48824400	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:48816400-48827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:48816400-48833800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:48816400-48836200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:48816800-48821000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:48816800-48824200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:48817200-48824800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:48817400-48822800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:48818200-48825200	Weak transcription	Gastric	stomach
44	chr2:48818600-48819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:48818600-48822800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:48818800-48819200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:48818800-48823200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:48818800-48825800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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