Variant report

Variant	esv3416707
Chromosome Location	chr2:48587930-48588491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 85 )

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	rs76154567	chr2:48587963-48587964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373195067	chr2:48588006-48588007	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148067645	chr2:48588057-48588058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188500738	chr2:48588064-48588065	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563067423	chr2:48588086-48588087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530551256	chr2:48588095-48588096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557174750	chr2:48588110-48588111	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552237562	chr2:48588118-48588119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7561573	chr2:48588127-48588128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10719302	chr2:48588153-48588154	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147249252	chr2:48588170-48588171	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7600794	chr2:48588197-48588198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs113547991	chr2:48588232-48588233	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376485787	chr2:48588255-48588256	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373690606	chr2:48588260-48588261	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76984510	chr2:48588267-48588268	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528086495	chr2:48588325-48588326	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372045008	chr2:48588408-48588409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561930251	chr2:48588417-48588418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548114687	chr2:48588434-48588435	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566334291	chr2:48588475-48588476	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544700103	chr2:48588478-48588479	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48573600-48604000	Weak transcription	Ovary	ovary
4	chr2:48574200-48602000	Weak transcription	Gastric	stomach
5	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
6	chr2:48574800-48589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48574800-48589600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:48576200-48602000	Weak transcription	Lung	lung
10	chr2:48576400-48590000	Weak transcription	Placenta	Placenta
11	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
12	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:48577600-48589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:48577600-48589600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:48577800-48592400	Weak transcription	Right Atrium	heart
16	chr2:48577800-48602000	Weak transcription	Fetal Kidney	kidney
17	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:48578600-48591000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:48578800-48589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:48578800-48589600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:48579000-48589400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:48579000-48595000	Weak transcription	Esophagus	oesophagus
24	chr2:48579000-48595000	Weak transcription	Fetal Stomach	stomach
25	chr2:48579200-48593000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:48579200-48595400	Weak transcription	Fetal Intestine Large	intestine
27	chr2:48579400-48589800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:48580400-48595200	Weak transcription	HSMMtube	muscle
29	chr2:48580600-48588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:48580600-48601800	Weak transcription	Hela-S3	cervix
31	chr2:48580800-48589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:48580800-48591800	Weak transcription	NH-A	brain
33	chr2:48580800-48599800	Weak transcription	NHEK	skin
34	chr2:48580800-48602000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:48580800-48602000	Weak transcription	Osteobl	bone
36	chr2:48580800-48604000	Weak transcription	Aorta	Aorta
37	chr2:48581000-48593400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:48581200-48590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:48581400-48589400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:48581400-48589400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:48581400-48589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:48581400-48589600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:48581400-48589600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:48581400-48589600	Weak transcription	NHLF	lung
45	chr2:48581400-48589800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:48581400-48589800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:48581400-48589800	Weak transcription	HMEC	breast
48	chr2:48581400-48592400	Weak transcription	NHDF-Ad	bronchial
49	chr2:48581400-48600800	Weak transcription	Spleen	Spleen
50	chr2:48581400-48601800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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