Variant report

Variant	nsv963907
Chromosome Location	chr2:32628311-32634106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32601960..32603780-chr2:32628492..32630204,2	MCF-7	breast:
2	chr2:32628910..32631702-chr2:32651764..32653919,2	MCF-7	breast:
3	chr2:32631333..32634011-chr2:32636154..32637762,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs550065767	chr2:32628325-32628326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569877303	chr2:32628358-32628359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193282171	chr2:32628385-32628386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558600168	chr2:32628418-32628419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566195086	chr2:32628446-32628447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184333938	chr2:32628561-32628562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554993078	chr2:32628562-32628563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574740803	chr2:32628563-32628564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537824250	chr2:32628609-32628610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534329577	chr2:32628611-32628612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142618736	chr2:32628619-32628620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576276164	chr2:32628643-32628644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188308364	chr2:32628661-32628662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561553298	chr2:32628713-32628714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531777406	chr2:32628743-32628744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147627725	chr2:32628779-32628780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554599234	chr2:32628780-32628781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34459119	chr2:32628794-32628795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370146554	chr2:32628828-32628829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560894151	chr2:32628857-32628858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180874671	chr2:32628941-32628942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55964632	chr2:32628997-32628998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549544868	chr2:32628998-32628999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397984244	chr2:32629012-32629013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550029293	chr2:32629041-32629042	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183809998	chr2:32629061-32629062	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570038863	chr2:32629072-32629073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373901045	chr2:32629096-32629097	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532547485	chr2:32629165-32629166	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375941250	chr2:32629177-32629178	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188621977	chr2:32629188-32629189	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142161900	chr2:32629199-32629200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550383267	chr2:32629207-32629208	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181407089	chr2:32629217-32629218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144554442	chr2:32629221-32629222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568408009	chr2:32629223-32629224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537462333	chr2:32629224-32629225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59658909	chr2:32629282-32629283	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397816166	chr2:32629283-32629284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556475383	chr2:32629296-32629297	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576439142	chr2:32629307-32629308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147845135	chr2:32629311-32629312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377205015	chr2:32629321-32629322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187104803	chr2:32629345-32629346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572152198	chr2:32629352-32629353	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142355464	chr2:32629365-32629366	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560837769	chr2:32629367-32629368	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370760143	chr2:32629368-32629369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150181842	chr2:32629420-32629421	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555550014	chr2:32629425-32629426	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32653200	Weak transcription	Gastric	stomach
2	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
4	chr2:32604600-32635000	Strong transcription	Fetal Thymus	thymus
5	chr2:32604600-32635200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:32604600-32637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32604800-32635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:32605200-32635400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:32605200-32637200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:32605400-32652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:32605800-32634000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:32606800-32636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:32607000-32636200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:32607200-32650600	Weak transcription	Fetal Heart	heart
15	chr2:32607600-32639800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:32607800-32634000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:32607800-32637800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:32607800-32640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:32609000-32632200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:32609800-32637400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:32613800-32645400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:32617400-32632200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:32617800-32650800	Weak transcription	Right Ventricle	heart
24	chr2:32618000-32640400	Weak transcription	Small Intestine	intestine
25	chr2:32618000-32650800	Weak transcription	Psoas Muscle	Psoas
26	chr2:32618600-32644800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:32618800-32640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:32619000-32629000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:32620200-32650600	Weak transcription	Aorta	Aorta
30	chr2:32621000-32631600	Weak transcription	Hela-S3	cervix
31	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
33	chr2:32621400-32640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:32621800-32630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:32621800-32639800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:32621800-32639800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:32622000-32629000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:32622000-32639800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:32622000-32640200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:32622200-32640000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:32622200-32640000	Weak transcription	Ovary	ovary
43	chr2:32622400-32629400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:32622400-32639800	Weak transcription	NHLF	lung
45	chr2:32622400-32640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:32622400-32640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:32622400-32640200	Weak transcription	Fetal Brain Female	brain
48	chr2:32622600-32629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:32622600-32636000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:32622600-32636200	Weak transcription	Pancreas	Pancrea

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