Variant report

Variant	nsv535611
Chromosome Location	chr2:31385242-31431588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:31418550..31420224-chr2:31425779..31428465,2	K562	blood:
2	chr2:31408453..31411420-chr2:31417636..31420052,2	MCF-7	breast:
3	chr2:31272032..31272775-chr2:31392833..31393525,2	MCF-7	breast:
4	chr2:31382368..31384953-chr2:31385943..31389516,3	K562	blood:
5	chr2:31418550..31420224-chr2:31425779..31428465,2	K562	blood:
6	chr2:31407024..31409183-chr2:31430215..31431751,2	MCF-7	breast:
7	chr2:31374189..31375034-chr2:31392805..31393608,2	MCF-7	breast:
8	chr2:30934379..30935101-chr2:31392582..31393517,4	MCF-7	breast:
9	chr2:31361200..31361839-chr2:31415622..31416505,2	MCF-7	breast:
10	chr2:30937140..30937644-chr2:31393091..31393610,2	MCF-7	breast:
11	chr2:30934393..30935214-chr2:31392750..31393384,3	MCF-7	breast:
12	chr2:31410117..31413014-chr2:31413496..31415542,2	MCF-7	breast:
13	chr2:31407024..31409183-chr2:31430215..31431751,2	MCF-7	breast:
14	chr2:31084008..31085526-chr2:31392671..31393659,6	MCF-7	breast:
15	chr2:31085085..31085843-chr2:31392722..31393572,3	K562	blood:
16	chr2:31410117..31413014-chr2:31413496..31415542,2	MCF-7	breast:
17	chr2:31408453..31411420-chr2:31417636..31420052,2	MCF-7	breast:
18	chr2:30938969..30939544-chr2:31392686..31393613,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158089	chromatin interactions

Extended variants
information (count: 2132 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2132 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138171207	chr2:31385295-31385296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566482791	chr2:31385300-31385301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182638290	chr2:31385307-31385308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6755056	chr2:31385328-31385329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35571701	chr2:31385335-31385336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556725973	chr2:31385338-31385339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115174529	chr2:31385356-31385357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537791382	chr2:31385363-31385364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558105139	chr2:31385434-31385435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116068686	chr2:31385483-31385484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533780683	chr2:31385485-31385486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34156551	chr2:31385512-31385513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574435037	chr2:31385513-31385514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553910422	chr2:31385535-31385536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564064421	chr2:31385545-31385546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542704878	chr2:31385547-31385548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114165020	chr2:31385553-31385554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187560346	chr2:31385572-31385573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544975866	chr2:31385624-31385625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565458636	chr2:31385649-31385650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76577433	chr2:31385670-31385671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145249698	chr2:31385714-31385715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7603504	chr2:31385736-31385737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192804011	chr2:31385836-31385837	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs34232090	chr2:31385844-31385845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs184073412	chr2:31385847-31385848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs144305212	chr2:31385895-31385896	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs553807631	chr2:31385928-31385929	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs73921532	chr2:31385943-31385944	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565729096	chr2:31385947-31385948	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs115043666	chr2:31385985-31385986	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs534091533	chr2:31385994-31385995	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs202097475	chr2:31386001-31386002	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs148748587	chr2:31386013-31386014	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs144797301	chr2:31386014-31386015	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs376260520	chr2:31386034-31386035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs535995694	chr2:31386042-31386043	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs187302628	chr2:31386089-31386090	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs529200344	chr2:31386101-31386102	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs576096127	chr2:31386107-31386108	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs550461205	chr2:31386108-31386109	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73921533	chr2:31386109-31386110	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565263165	chr2:31386131-31386132	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs572687478	chr2:31386135-31386136	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs536246334	chr2:31386151-31386152	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs74626365	chr2:31386158-31386159	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs147511601	chr2:31386211-31386212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs550362687	chr2:31386257-31386258	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs562604341	chr2:31386271-31386272	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs73921534	chr2:31386321-31386322	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31385000-31387200	Enhancers	Brain Germinal Matrix	brain
2	chr2:31385000-31387800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:31385800-31386600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr2:31386000-31386400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:31386000-31386600	Enhancers	Fetal Brain Female	brain
6	chr2:31387800-31388200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:31387800-31388400	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:31387800-31388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:31387800-31388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:31388000-31388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:31388400-31389400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:31388400-31393000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:31388400-31407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:31389400-31389800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:31389600-31390200	Enhancers	HMEC	breast
16	chr2:31389600-31390400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:31389800-31390200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:31389800-31390200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:31390400-31390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:31390600-31392000	Enhancers	Fetal Thymus	thymus
21	chr2:31390800-31391600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:31391200-31418600	Weak transcription	Gastric	stomach
23	chr2:31393000-31393400	Enhancers	Fetal Heart	heart
24	chr2:31393000-31395200	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:31394000-31395000	Enhancers	GM12878-XiMat	blood
26	chr2:31394400-31394800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:31394600-31394800	Enhancers	Primary B cells from cord blood	blood
28	chr2:31394800-31395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:31394800-31419600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:31395200-31416600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:31395600-31395800	Enhancers	Esophagus	oesophagus
32	chr2:31395800-31415000	Weak transcription	Esophagus	oesophagus
33	chr2:31397000-31397600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:31400200-31401200	Enhancers	Fetal Heart	heart
35	chr2:31400600-31400800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:31400600-31401600	Enhancers	Adipose Nuclei	Adipose
37	chr2:31400800-31401600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:31403800-31404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:31404000-31415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:31407000-31407600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:31407600-31412800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:31410400-31414600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:31410800-31420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:31411000-31421800	Weak transcription	Primary T cells from cord blood	blood
45	chr2:31411000-31427400	Weak transcription	Fetal Brain Female	brain
46	chr2:31411200-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:31412800-31416800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:31413200-31417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:31413400-31425600	Weak transcription	Right Ventricle	heart
50	chr2:31413800-31416200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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