Variant report

Variant	esv3521946
Chromosome Location	chr12:72724435-72726333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551546111	chr12:72724452-72724453	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563482878	chr12:72724497-72724498	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144843113	chr12:72724506-72724507	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567344082	chr12:72724652-72724653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35786617	chr12:72724737-72724738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187545574	chr12:72724739-72724740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567272353	chr12:72724778-72724779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534548441	chr12:72724794-72724795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138762547	chr12:72724875-72724876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571354490	chr12:72724885-72724886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555238598	chr12:72724904-72724905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61926576	chr12:72724950-72724951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4760761	chr12:72724957-72724958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192125015	chr12:72724980-72724981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7955732	chr12:72724995-72724996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs377050252	chr12:72725075-72725076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140234448	chr12:72725076-72725077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376301748	chr12:72725095-72725096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185747227	chr12:72725120-72725121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386764163	chr12:72725141-72725142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11834123	chr12:72725150-72725151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577692195	chr12:72725164-72725165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544919717	chr12:72725187-72725188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145288566	chr12:72725252-72725253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78787388	chr12:72725253-72725254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542932518	chr12:72725300-72725301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386508312	chr12:72725309-72725310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561134396	chr12:72725332-72725333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528129625	chr12:72725344-72725345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369642920	chr12:72725365-72725366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201508581	chr12:72725369-72725370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546599348	chr12:72725476-72725477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7135395	chr12:72725546-72725547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs532236317	chr12:72725570-72725571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368741586	chr12:72725591-72725592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190557583	chr12:72725652-72725653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34097668	chr12:72725802-72725803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556040013	chr12:72725803-72725804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35124993	chr12:72725829-72725830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567602901	chr12:72725916-72725917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34965504	chr12:72725927-72725928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534723706	chr12:72725982-72725983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192466739	chr12:72725987-72725988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575078934	chr12:72725992-72725993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113360460	chr12:72725998-72725999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577754000	chr12:72726011-72726012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545491300	chr12:72726023-72726024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12819989	chr12:72726064-72726065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540975587	chr12:72726065-72726066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35700010	chr12:72726114-72726115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams Syndrome	20824207	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72713400-72738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:72723600-72725000	Enhancers	Psoas Muscle	Psoas
3	chr12:72723600-72725400	Enhancers	Fetal Kidney	kidney
4	chr12:72723800-72724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:72723800-72724800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:72724200-72724600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:72724200-72724600	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:72724200-72724800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:72724400-72724600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:72724400-72724800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:72724400-72724800	Enhancers	Ovary	ovary
12	chr12:72724400-72728200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:72724400-72728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:72724400-72728600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:72724400-72730400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:72724800-72730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:72725000-72725400	Weak transcription	Psoas Muscle	Psoas
18	chr12:72725400-72725600	Enhancers	Psoas Muscle	Psoas
19	chr12:72725600-72730400	Weak transcription	Psoas Muscle	Psoas

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