Variant report

Variant	esv3350618
Chromosome Location	chr2:53920871-53921295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555339855	chr2:53920894-53920895	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575277086	chr2:53920929-53920930	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544605441	chr2:53920930-53920931	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7563054	chr2:53920931-53920932	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578067224	chr2:53920936-53920937	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545643001	chr2:53920938-53920939	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554900752	chr2:53920939-53920940	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559530738	chr2:53920945-53920946	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370907983	chr2:53920946-53920947	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192039591	chr2:53920970-53920971	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs542189565	chr2:53920981-53920982	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561657007	chr2:53920985-53920986	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371065314	chr2:53920986-53920987	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374158367	chr2:53920988-53920989	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530479061	chr2:53920998-53920999	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550554402	chr2:53921000-53921001	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376224250	chr2:53921013-53921014	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149703788	chr2:53921023-53921024	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370438766	chr2:53921047-53921048	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145452596	chr2:53921053-53921054	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11553661	chr2:53921056-53921057	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs202150949	chr2:53921057-53921058	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201926371	chr2:53921063-53921064	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150481865	chr2:53921093-53921094	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367649992	chr2:53921133-53921134	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs138349062	chr2:53921138-53921139	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs3731971	chr2:53921151-53921152	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535737252	chr2:53921178-53921179	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371491315	chr2:53921200-53921201	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569209581	chr2:53921230-53921231	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184641040	chr2:53921231-53921232	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs3731970	chr2:53921270-53921271	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578023921	chr2:53921272-53921273	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534332344	chr2:53921290-53921291	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553203760	chr2:53921293-53921294	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs75885371	chr2:53921294-53921295	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:53888200-53934200	Weak transcription	Lung	lung
5	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
6	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
7	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:53894400-53925000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:53895400-53921200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:53895600-53921400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:53896400-53926000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:53896800-53924800	Weak transcription	Thymus	Thymus
18	chr2:53896800-53936600	Weak transcription	Aorta	Aorta
19	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:53898200-53935400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:53898200-53935400	Weak transcription	Fetal Kidney	kidney
22	chr2:53900600-53921400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:53900600-53926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:53900600-53935600	Weak transcription	K562	blood
25	chr2:53900800-53936400	Weak transcription	NH-A	brain
26	chr2:53900800-53936800	Weak transcription	NHLF	lung
27	chr2:53906600-53933800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:53906800-53935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:53907200-53927000	Weak transcription	Placenta	Placenta
30	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
31	chr2:53908800-53926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:53909000-53934400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:53909000-53935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:53910000-53935200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:53910000-53941600	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:53910600-53933600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:53911200-53926000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:53911400-53925000	Weak transcription	Fetal Stomach	stomach
41	chr2:53911400-53935400	Weak transcription	Right Ventricle	heart
42	chr2:53911600-53936200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:53912200-53925200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:53912400-53936200	Weak transcription	Gastric	stomach
45	chr2:53912600-53933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:53912800-53927000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:53913000-53936200	Weak transcription	Spleen	Spleen
48	chr2:53913200-53921000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:53913400-53926400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:53914000-53924000	Weak transcription	Brain Cingulate Gyrus	brain

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