Variant report

Variant	esv3445438
Chromosome Location	chr2:48637140-48637410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48636349..48637908-chr2:48646875..48649366,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374803389	chr2:48637196-48637197	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201283446	chr2:48637208-48637209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533424500	chr2:48637210-48637211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62137020	chr2:48637225-48637226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538610683	chr2:48637236-48637237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56153806	chr2:48637265-48637266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145202526	chr2:48637290-48637291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368205070	chr2:48637293-48637294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571780168	chr2:48637303-48637304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542815286	chr2:48637355-48637356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62137021	chr2:48637390-48637391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs576571044	chr2:48637404-48637405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48628200-48640000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48634000-48641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:48634400-48641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:48634600-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48634600-48641400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:48634600-48642200	Weak transcription	Small Intestine	intestine
7	chr2:48635000-48640000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:48635200-48640000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:48635600-48641400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:48636200-48637200	Active TSS	A549	lung
11	chr2:48636400-48639400	Weak transcription	NHDF-Ad	bronchial
12	chr2:48636400-48640000	Enhancers	Adipose Nuclei	Adipose
13	chr2:48636800-48637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:48636800-48637200	Enhancers	Hela-S3	cervix
15	chr2:48637000-48637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:48637200-48637800	Enhancers	A549	lung
17	chr2:48637200-48642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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