Variant report

Variant	esv3584750
Chromosome Location	chr2:40926091-40949606
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	chr2:40896962..40898911-chr2:40928950..40930770,2	MCF-7	breast:

Extended variants
information (count: 628 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555734830	chr2:40926092-40926093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7608684	chr2:40926138-40926139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556967790	chr2:40926210-40926211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541302500	chr2:40926211-40926212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189338593	chr2:40926234-40926235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577884099	chr2:40926256-40926257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116379444	chr2:40926295-40926296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181993712	chr2:40926317-40926318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530529664	chr2:40926381-40926382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552367162	chr2:40926396-40926397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76578372	chr2:40926406-40926407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs68168524	chr2:40926448-40926449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370438177	chr2:40926477-40926478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545786460	chr2:40926481-40926482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560926883	chr2:40926485-40926486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74177099	chr2:40926494-40926495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs67918843	chr2:40926501-40926502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150586676	chr2:40926515-40926516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533310881	chr2:40926520-40926521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185779256	chr2:40926577-40926578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572152883	chr2:40926648-40926649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537543572	chr2:40926667-40926668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555513094	chr2:40926675-40926676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567630321	chr2:40926734-40926735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541101964	chr2:40926748-40926749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534633437	chr2:40926807-40926808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144522997	chr2:40926841-40926842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559453456	chr2:40926848-40926849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191076443	chr2:40926894-40926895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386645266	chr2:40926924-40926925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7556714	chr2:40926940-40926941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147764349	chr2:40926961-40926962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542689140	chr2:40926978-40926979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79103211	chr2:40926979-40926980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368257324	chr2:40927017-40927018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182976005	chr2:40927018-40927019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115283476	chr2:40927114-40927115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377557305	chr2:40927132-40927133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186661960	chr2:40927195-40927196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57770208	chr2:40927201-40927202	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139491698	chr2:40927224-40927225	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373947071	chr2:40927231-40927232	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78773867	chr2:40927237-40927238	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549429536	chr2:40927249-40927250	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76450323	chr2:40927265-40927266	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534974995	chr2:40927338-40927339	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546703719	chr2:40927367-40927368	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546917776	chr2:40927383-40927384	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571614554	chr2:40927403-40927404	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10177047	chr2:40927433-40927434	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40917800-40929600	Weak transcription	Aorta	Aorta
2	chr2:40923600-40926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:40926000-40926400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr2:40926400-40927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:40926800-40928000	Enhancers	NHEK	skin
6	chr2:40927000-40927400	Enhancers	HUVEC	blood vessel
7	chr2:40927000-40927800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:40927200-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:40927800-40928000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:40927800-40928600	Enhancers	Placenta	Placenta
11	chr2:40928000-40928200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:40939200-40939800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:40939200-40939800	Enhancers	HSMMtube	muscle
14	chr2:40939400-40940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40940000-40944200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:40943200-40943600	Enhancers	HSMM	muscle
17	chr2:40943200-40947000	Weak transcription	Aorta	Aorta
18	chr2:40943400-40943600	Enhancers	HMEC	breast
19	chr2:40943400-40943600	Enhancers	HSMMtube	muscle
20	chr2:40943400-40944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:40943400-40944600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:40943600-40944200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:40943600-40944200	Weak transcription	HMEC	breast
24	chr2:40943600-40944200	Weak transcription	HSMM	muscle
25	chr2:40943600-40944200	Weak transcription	HSMMtube	muscle
26	chr2:40943800-40944800	Enhancers	NHEK	skin
27	chr2:40944000-40944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:40944000-40944600	Enhancers	Osteobl	bone
29	chr2:40944200-40944600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:40944200-40944600	Enhancers	Esophagus	oesophagus
31	chr2:40944200-40944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:40944200-40944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:40944200-40944800	Enhancers	HMEC	breast
34	chr2:40944200-40946600	Active TSS	HSMM	muscle
35	chr2:40944200-40946800	Active TSS	HSMMtube	muscle
36	chr2:40944200-40947000	Enhancers	Colon Smooth Muscle	Colon
37	chr2:40944400-40944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:40944400-40944800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:40944400-40944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:40944400-40944800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:40944400-40945000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:40944400-40945200	Enhancers	NHDF-Ad	bronchial
43	chr2:40944600-40948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:40944600-40948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:40944600-40949000	Weak transcription	Osteobl	bone
46	chr2:40944600-40949600	Weak transcription	Esophagus	oesophagus
47	chr2:40944800-40945200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:40944800-40946000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:40944800-40946400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:40944800-40947000	Enhancers	Rectal Smooth Muscle	rectum

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