Variant report

Variant	esv1010639
Chromosome Location	chr2:30593100-30598411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30574396..30577189-chr2:30593038..30595856,2	K562	blood:
2	chr2:30545395..30547376-chr2:30598236..30600138,2	MCF-7	breast:
3	chr2:30453443..30455973-chr2:30592858..30597283,4	K562	blood:

Variant related genes	Relation type
ENSG00000213626	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548694534	chr2:30593165-30593166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148649272	chr2:30593175-30593176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556695157	chr2:30593176-30593177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369576984	chr2:30593192-30593193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557591413	chr2:30593199-30593200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571779490	chr2:30593213-30593214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577472774	chr2:30593218-30593219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540166893	chr2:30593219-30593220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575858200	chr2:30593222-30593223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200171357	chr2:30593231-30593232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553387856	chr2:30593245-30593246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572036080	chr2:30593246-30593247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543195312	chr2:30593284-30593285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186949539	chr2:30593305-30593306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574216354	chr2:30593307-30593308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543070666	chr2:30593308-30593309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575645196	chr2:30593310-30593311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532202133	chr2:30593319-30593320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188929732	chr2:30593343-30593344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181376758	chr2:30593355-30593356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111618470	chr2:30593365-30593366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548623710	chr2:30593366-30593367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185512799	chr2:30593388-30593389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189973240	chr2:30593405-30593406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371802708	chr2:30593426-30593427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141237034	chr2:30593432-30593433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571104742	chr2:30593438-30593439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142460728	chr2:30593451-30593452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs386644422	chr2:30593463-30593464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549071378	chr2:30593465-30593466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566041367	chr2:30593478-30593479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536574396	chr2:30593488-30593489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553663899	chr2:30593491-30593492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539123198	chr2:30593521-30593522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150773269	chr2:30593531-30593532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557810298	chr2:30593537-30593538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77265413	chr2:30593538-30593539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543158010	chr2:30593640-30593641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563020524	chr2:30593641-30593642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78823861	chr2:30593642-30593643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73925153	chr2:30593686-30593687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111589149	chr2:30593725-30593726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76044249	chr2:30593729-30593730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73925154	chr2:30593811-30593812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs199629174	chr2:30593855-30593856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397984216	chr2:30593867-30593868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115578281	chr2:30593868-30593869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7608507	chr2:30593920-30593921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562719197	chr2:30593982-30593983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368227337	chr2:30593999-30594000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30586200-30594800	Weak transcription	Ovary	ovary
3	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
5	chr2:30589600-30593800	Weak transcription	Primary B cells from cord blood	blood
6	chr2:30589600-30594800	Weak transcription	Placenta	Placenta
7	chr2:30589800-30593600	Weak transcription	Fetal Thymus	thymus
8	chr2:30589800-30594800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:30589800-30594800	Weak transcription	Left Ventricle	heart
10	chr2:30589800-30595800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:30590000-30593800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:30590400-30594000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:30591400-30594600	Weak transcription	Fetal Heart	heart
14	chr2:30591400-30594800	Weak transcription	Right Atrium	heart
15	chr2:30591600-30594600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:30591600-30594800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:30591600-30594800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:30591600-30595000	Weak transcription	HSMMtube	muscle
19	chr2:30591600-30595200	Weak transcription	Aorta	Aorta
20	chr2:30591600-30596600	Weak transcription	NH-A	brain
21	chr2:30591600-30596800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30591600-30596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:30591600-30597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:30591800-30594800	Weak transcription	Fetal Kidney	kidney
25	chr2:30592200-30593400	Weak transcription	Thymus	Thymus
26	chr2:30592200-30594800	Weak transcription	NHLF	lung
27	chr2:30592200-30597400	Weak transcription	Spleen	Spleen
28	chr2:30592400-30594200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30592400-30594400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:30592800-30594600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:30592800-30594600	Weak transcription	Osteobl	bone
32	chr2:30592800-30594800	Weak transcription	Fetal Lung	lung
33	chr2:30593000-30594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30593000-30594600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:30593000-30601000	Weak transcription	Pancreas	Pancrea
36	chr2:30593400-30593600	Enhancers	Thymus	Thymus
37	chr2:30593600-30594200	Enhancers	Fetal Thymus	thymus
38	chr2:30593800-30594400	Enhancers	Primary B cells from cord blood	blood
39	chr2:30593800-30594400	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:30594000-30595000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:30594200-30596800	Weak transcription	Fetal Thymus	thymus
42	chr2:30594200-30597200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:30594400-30597600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:30594600-30595400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:30594600-30595400	Enhancers	Fetal Heart	heart
46	chr2:30594600-30597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:30594600-30597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:30594600-30597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:30594600-30597600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:30594600-30597600	Enhancers	Osteobl	bone

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