Variant report

Variant	esv3409669
Chromosome Location	chr2:48430046-48430555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 84 )

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	rs569433387	chr2:48430071-48430072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143869362	chr2:48430081-48430082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558425818	chr2:48430111-48430112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573487819	chr2:48430177-48430178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7589085	chr2:48430195-48430196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555443836	chr2:48430203-48430204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140647121	chr2:48430265-48430266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150087547	chr2:48430266-48430267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556246543	chr2:48430273-48430274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563289750	chr2:48430283-48430284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138398922	chr2:48430286-48430287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182334061	chr2:48430354-48430355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4953563	chr2:48430372-48430373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148846783	chr2:48430412-48430413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540534976	chr2:48430420-48430421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561622010	chr2:48430434-48430435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571135044	chr2:48430435-48430436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146961720	chr2:48430444-48430445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186006133	chr2:48430481-48430482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550687384	chr2:48430496-48430497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553598588	chr2:48430525-48430526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531588305	chr2:48430530-48430531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48423600-48432600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
3	chr2:48424000-48432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:48424600-48431400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:48424600-48432600	Weak transcription	HSMMtube	muscle
6	chr2:48424600-48434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:48424800-48434000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:48425200-48431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:48426200-48434000	Weak transcription	Spleen	Spleen
10	chr2:48426200-48436200	Weak transcription	Right Ventricle	heart
11	chr2:48426400-48433800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:48426600-48431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:48426600-48431200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:48426600-48431200	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:48426600-48431200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:48426600-48431600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:48426600-48431600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:48426600-48432400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:48426800-48432200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:48426800-48433800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:48426800-48434000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:48426800-48436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:48427000-48431800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:48427400-48433800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:48428000-48432400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:48428000-48432600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:48428200-48433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:48428400-48432400	Weak transcription	GM12878-XiMat	blood
29	chr2:48429400-48432000	Enhancers	HepG2	liver
30	chr2:48429400-48433200	Enhancers	Liver	Liver
31	chr2:48429800-48432400	Weak transcription	K562	blood

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