Variant report

Variant	nsv983473
Chromosome Location	chr12:86055107-86079111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 484 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150092551	chr12:86055116-86055117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377290943	chr12:86055120-86055121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11116953	chr12:86055240-86055241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187454677	chr12:86055265-86055266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562624921	chr12:86055289-86055290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370733976	chr12:86055314-86055315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572271029	chr12:86055352-86055353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138179756	chr12:86055380-86055381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552749077	chr12:86055388-86055389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79229200	chr12:86055411-86055412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191738039	chr12:86055417-86055418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562514995	chr12:86055423-86055424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373014045	chr12:86055438-86055439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183250158	chr12:86055463-86055464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550653516	chr12:86055467-86055468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569342913	chr12:86055497-86055498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539587014	chr12:86055637-86055638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368501162	chr12:86055651-86055652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114263677	chr12:86055670-86055671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141320356	chr12:86055675-86055676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116474837	chr12:86055718-86055719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555715873	chr12:86055729-86055730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573955991	chr12:86055774-86055775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188172623	chr12:86055805-86055806	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544232733	chr12:86055818-86055819	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562306379	chr12:86055841-86055842	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577559845	chr12:86055848-86055849	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114008486	chr12:86055904-86055905	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11327844	chr12:86055932-86055933	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192921279	chr12:86055951-86055952	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528674240	chr12:86055983-86055984	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546761545	chr12:86055987-86055988	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562045781	chr12:86056016-86056017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11116954	chr12:86056065-86056066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74646908	chr12:86056072-86056073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551245683	chr12:86056074-86056075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2199507	chr12:86056091-86056092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17013093	chr12:86056127-86056128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs76558999	chr12:86056145-86056146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183486023	chr12:86056152-86056153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534000980	chr12:86056161-86056162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186711285	chr12:86056175-86056176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567577409	chr12:86056183-86056184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2199506	chr12:86056187-86056188	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562173229	chr12:86056227-86056228	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531250773	chr12:86056236-86056237	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576372097	chr12:86056253-86056254	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556423113	chr12:86056260-86056261	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577598144	chr12:86056266-86056267	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544952685	chr12:86056286-86056287	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86054200-86057400	Weak transcription	Aorta	Aorta
2	chr12:86055400-86055800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:86055400-86056000	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:86055400-86056400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:86055600-86056200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:86055800-86056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:86056000-86056200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:86056200-86056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:86056400-86056600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:86057400-86058000	ZNF genes & repeats	Aorta	Aorta
11	chr12:86058000-86058800	Weak transcription	Aorta	Aorta
12	chr12:86063600-86064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:86065600-86066600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:86070400-86070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:86070400-86071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:86071600-86074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:86074000-86075600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:86074200-86075000	Enhancers	Esophagus	oesophagus
19	chr12:86074400-86075400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:86074600-86075200	ZNF genes & repeats	HMEC	breast
21	chr12:86074800-86075200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:86075200-86075800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr12:86075600-86077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:86075800-86081600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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