Variant report

Variant	nsv961383
Chromosome Location	chr2:12162851-12165588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GREB1-10	chr2:12164395-12164528	NONHSAT069216
2	lnc-GREB1-10	chr2:12164161-12164261	NONHSAT069216
3	lnc-GREB1-10	chr2:12164395-12164528	NONHSAT069209

Extended variants
information (count: 87 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561108864	chr2:12162952-12162953	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62113769	chr2:12162965-12162966	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540503414	chr2:12162974-12162975	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142922113	chr2:12162986-12162987	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532400392	chr2:12162998-12162999	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200666821	chr2:12163132-12163133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373604616	chr2:12163133-12163134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71394784	chr2:12163134-12163135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55701341	chr2:12163147-12163148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199535568	chr2:12163178-12163179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550905518	chr2:12163200-12163201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189099878	chr2:12163221-12163222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12692452	chr2:12163225-12163226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs146160210	chr2:12163243-12163244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555638655	chr2:12163317-12163318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567448936	chr2:12163337-12163338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572151550	chr2:12163371-12163372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534851841	chr2:12163386-12163387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181766799	chr2:12163390-12163391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186583964	chr2:12163414-12163415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140196651	chr2:12163501-12163502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556873076	chr2:12163503-12163504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536359255	chr2:12163506-12163507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13026386	chr2:12163521-12163522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372802983	chr2:12163533-12163534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535914636	chr2:12163567-12163568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554270147	chr2:12163596-12163597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573085134	chr2:12163613-12163614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190989792	chr2:12163614-12163615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181010704	chr2:12163619-12163620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577426000	chr2:12163620-12163621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149848028	chr2:12163630-12163631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370418075	chr2:12163695-12163696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562872841	chr2:12163696-12163697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186424052	chr2:12163760-12163761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144915286	chr2:12163786-12163787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191067656	chr2:12163788-12163789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4669796	chr2:12163800-12163801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182561884	chr2:12163900-12163901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571360334	chr2:12163950-12163951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187215987	chr2:12163961-12163962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550620829	chr2:12164004-12164005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190688605	chr2:12164005-12164006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535877010	chr2:12164008-12164009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554233265	chr2:12164065-12164066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183209182	chr2:12164077-12164078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200690085	chr2:12164085-12164086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13027180	chr2:12164105-12164106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116810853	chr2:12164120-12164121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188921371	chr2:12164126-12164127	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12155000-12164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:12157800-12163000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr2:12162600-12164000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:12162800-12163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:12163400-12164600	Enhancers	NHDF-Ad	bronchial
6	chr2:12163600-12164400	Enhancers	Fetal Heart	heart
7	chr2:12163600-12164600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:12163600-12165000	Enhancers	HSMM	muscle
9	chr2:12163600-12165000	Enhancers	HSMMtube	muscle
10	chr2:12163800-12164600	Enhancers	HMEC	breast
11	chr2:12163800-12165000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:12163800-12165000	Enhancers	Osteobl	bone
13	chr2:12164000-12165000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:12164000-12165000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:12164000-12165000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:12164200-12164600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:12164200-12164600	Enhancers	Colon Smooth Muscle	Colon
18	chr2:12164200-12165000	Enhancers	NH-A	brain

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