Variant report

Variant	nsv528984
Chromosome Location	chr2:34036427-34043426
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	chr11:62608939..62609489-chr2:34040620..34041120,2	Hela-S3	cervix:
2	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs1522581	chr2:34036427-34036428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188355970	chr2:34036460-34036461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548253020	chr2:34036461-34036462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568103859	chr2:34036482-34036483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537047697	chr2:34036500-34036501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556493086	chr2:34036517-34036518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576438740	chr2:34036546-34036547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192765004	chr2:34036559-34036560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376033061	chr2:34036570-34036571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115536083	chr2:34036581-34036582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144100751	chr2:34036605-34036606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75710140	chr2:34036626-34036627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75377732	chr2:34036680-34036681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543934345	chr2:34036690-34036691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17013939	chr2:34036757-34036758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574675858	chr2:34036772-34036773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147322772	chr2:34036781-34036782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183199107	chr2:34036810-34036811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187506898	chr2:34036822-34036823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373248485	chr2:34036833-34036834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139487136	chr2:34036873-34036874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149660143	chr2:34036887-34036888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563319169	chr2:34036890-34036891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575363549	chr2:34036895-34036896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1522580	chr2:34036906-34036907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560992469	chr2:34036914-34036915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564634294	chr2:34036923-34036924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528703634	chr2:34036945-34036946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144511655	chr2:34036946-34036947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376688795	chr2:34036953-34036954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370394042	chr2:34036978-34036979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72782080	chr2:34036989-34036990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552830578	chr2:34037022-34037023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529608495	chr2:34037034-34037035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535633227	chr2:34037037-34037038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555221444	chr2:34037053-34037054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575414257	chr2:34037061-34037062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192069844	chr2:34037065-34037066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541203097	chr2:34037093-34037094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550516325	chr2:34037109-34037110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67192449	chr2:34037110-34037111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563803443	chr2:34037124-34037125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184710370	chr2:34037133-34037134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7559601	chr2:34037163-34037164	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs546261961	chr2:34037173-34037174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539513686	chr2:34037191-34037192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559993092	chr2:34037197-34037198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13395853	chr2:34037220-34037221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565115508	chr2:34037267-34037268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562107924	chr2:34037292-34037293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
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
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34034800-34036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:34035200-34036600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:34035200-34036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:34035600-34036600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:34035600-34039400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:34035800-34036600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:34035800-34037600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:34036200-34036800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:34036400-34039400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:34036600-34037800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:34036600-34039600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:34036600-34039600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:34036800-34038000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:34036800-34039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:34037800-34038000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:34037800-34038200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:34038000-34038200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:34039400-34039800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:34039400-34040000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:34039400-34040400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:34039400-34040400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:34039400-34040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:34039600-34040000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:34039600-34040000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:34039600-34040400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:34039600-34040400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:34039800-34040200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:34040000-34040200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links