Variant report

Variant	esv2318898
Chromosome Location	chr2:54524137-54524641
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	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188704397	chr2:54524139-54524140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112500374	chr2:54524218-54524219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34803791	chr2:54524239-54524240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397793037	chr2:54524241-54524242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73933612	chr2:54524246-54524247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201846120	chr2:54524253-54524254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73933613	chr2:54524256-54524257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548389452	chr2:54524352-54524353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377500910	chr2:54524353-54524354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143223471	chr2:54524406-54524407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565051579	chr2:54524418-54524419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148300377	chr2:54524453-54524454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370115164	chr2:54524469-54524470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13385842	chr2:54524473-54524474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372677155	chr2:54524486-54524487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577440770	chr2:54524539-54524540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541691336	chr2:54524548-54524549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181189024	chr2:54524559-54524560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535776949	chr2:54524608-54524609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54501600-54537600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:54515200-54526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:54517600-54536800	Weak transcription	Aorta	Aorta
5	chr2:54517800-54537200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:54518400-54525600	Weak transcription	HSMMtube	muscle
7	chr2:54518600-54530000	Weak transcription	Right Atrium	heart
8	chr2:54523400-54525600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:54523400-54525600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:54523400-54529000	Weak transcription	Lung	lung
11	chr2:54523600-54525800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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