Variant report

Variant	esv1010164
Chromosome Location	chr2:31436026-31439821
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	chr17:63334973..63335809-chr2:31437485..31438063,2	MCF-7	breast:
2	chr2:31437754..31439740-chr2:31441574..31443729,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4952062	chr2:31436034-31436035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550771138	chr2:31436063-31436064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570940429	chr2:31436070-31436071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538798038	chr2:31436108-31436109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144426778	chr2:31436132-31436133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146623140	chr2:31436157-31436158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534904750	chr2:31436209-31436210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201150526	chr2:31436234-31436235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199749688	chr2:31436235-31436236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553121196	chr2:31436237-31436238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574328636	chr2:31436269-31436270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537070388	chr2:31436290-31436291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11680892	chr2:31436308-31436309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs4952063	chr2:31436328-31436329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189550192	chr2:31436336-31436337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559514914	chr2:31436348-31436349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4952064	chr2:31436358-31436359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs554940039	chr2:31436381-31436382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6726620	chr2:31436396-31436397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75808415	chr2:31436406-31436407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4952065	chr2:31436433-31436434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564377193	chr2:31436481-31436482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559058145	chr2:31436498-31436499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533462575	chr2:31436529-31436530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72786911	chr2:31436530-31436531	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141104311	chr2:31436531-31436532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59909519	chr2:31436558-31436559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6740128	chr2:31436569-31436570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568357564	chr2:31436602-31436603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6711677	chr2:31436654-31436655	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11124254	chr2:31436703-31436704	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6711794	chr2:31436723-31436724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs180681907	chr2:31436764-31436765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373167081	chr2:31436787-31436788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551362063	chr2:31436818-31436819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552681590	chr2:31436866-31436867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573074831	chr2:31436900-31436901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4951972	chr2:31436903-31436904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150085383	chr2:31436934-31436935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4951973	chr2:31436945-31436946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186124776	chr2:31436947-31436948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544625396	chr2:31436999-31437000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564465230	chr2:31437000-31437001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574605381	chr2:31437014-31437015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369012993	chr2:31437035-31437036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532571311	chr2:31437068-31437069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77256699	chr2:31437093-31437094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4952066	chr2:31437111-31437112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369421785	chr2:31437115-31437116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548371583	chr2:31437118-31437119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31411200-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:31423400-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:31424200-31437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:31428800-31437400	Weak transcription	Esophagus	oesophagus
5	chr2:31430200-31441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:31431800-31436800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:31432400-31436600	Weak transcription	Fetal Heart	heart
8	chr2:31435600-31436200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:31435800-31436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:31435800-31437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:31435800-31437200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:31435800-31439800	Enhancers	GM12878-XiMat	blood
13	chr2:31436000-31436400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:31436000-31436400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:31436000-31436400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:31436000-31436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:31436000-31436400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:31436000-31436400	Enhancers	Fetal Thymus	thymus
19	chr2:31436000-31436600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:31436200-31437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:31436200-31440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:31436400-31436800	Weak transcription	Fetal Thymus	thymus
23	chr2:31436400-31441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:31436400-31442200	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:31436600-31436800	Enhancers	Fetal Heart	heart
26	chr2:31436600-31438600	Enhancers	Dnd41	blood
27	chr2:31436800-31437200	Weak transcription	Fetal Heart	heart
28	chr2:31436800-31438000	Enhancers	Fetal Thymus	thymus
29	chr2:31436800-31441800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:31436800-31442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
32	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:31437000-31437400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:31437000-31437800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:31437000-31438000	Enhancers	Primary T cells from cord blood	blood
37	chr2:31437000-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:31437200-31437400	Enhancers	Fetal Heart	heart
39	chr2:31437200-31437800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:31437200-31438000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:31437400-31438400	Active TSS	Esophagus	oesophagus
42	chr2:31437400-31439000	Weak transcription	Fetal Heart	heart
43	chr2:31437600-31437800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:31437800-31439400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:31437800-31441200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:31438000-31439200	Weak transcription	Primary T cells from cord blood	blood
47	chr2:31438000-31439400	Weak transcription	Fetal Thymus	thymus
48	chr2:31438000-31440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:31438400-31438600	Flanking Active TSS	Esophagus	oesophagus
50	chr2:31438600-31440400	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links