Variant report

Variant	esv3388962
Chromosome Location	chr12:72905435-72907433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543556379	chr12:72905478-72905479	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs561497564	chr12:72905499-72905500	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528884441	chr12:72905500-72905501	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548555972	chr12:72905524-72905525	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138608571	chr12:72905534-72905535	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528023688	chr12:72905538-72905539	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs367700732	chr12:72905582-72905583	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570730046	chr12:72905630-72905631	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187030182	chr12:72905668-72905669	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191566066	chr12:72905683-72905684	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1353160	chr12:72905733-72905734	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540059625	chr12:72905771-72905772	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535833519	chr12:72905789-72905790	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553925441	chr12:72905810-72905811	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565945018	chr12:72905834-72905835	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539778688	chr12:72905840-72905841	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557949184	chr12:72905861-72905862	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558057276	chr12:72905866-72905867	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576325953	chr12:72905885-72905886	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571419625	chr12:72906001-72906002	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185347429	chr12:72906085-72906086	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188289682	chr12:72906108-72906109	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149186942	chr12:72906112-72906113	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373678175	chr12:72906117-72906118	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs193299034	chr12:72906118-72906119	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559111777	chr12:72906127-72906128	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185513140	chr12:72906152-72906153	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538381291	chr12:72906215-72906216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35695008	chr12:72906218-72906219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368187924	chr12:72906219-72906220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546112635	chr12:72906224-72906225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564297073	chr12:72906235-72906236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189301844	chr12:72906267-72906268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553247521	chr12:72906272-72906273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111468904	chr12:72906277-72906278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531800137	chr12:72906282-72906283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561562179	chr12:72906289-72906290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550149077	chr12:72906342-72906343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9645831	chr12:72906361-72906362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537289308	chr12:72906499-72906500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367544534	chr12:72906515-72906516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180886456	chr12:72906631-72906632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547755204	chr12:72906632-72906633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148352219	chr12:72906652-72906653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141555349	chr12:72906680-72906681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183677257	chr12:72906709-72906710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569825436	chr12:72906836-72906837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537231894	chr12:72906861-72906862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555316969	chr12:72906871-72906872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568490750	chr12:72906905-72906906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72880600-72905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:72901800-72905800	Weak transcription	Pancreas	Pancrea
3	chr12:72903200-72906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:72903600-72905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:72904200-72905800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:72904400-72906000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:72904600-72905800	Enhancers	Fetal Intestine Large	intestine
8	chr12:72905200-72905600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:72905200-72906000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:72905400-72905600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:72905400-72905800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:72905400-72906000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:72905400-72906000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:72905400-72906000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:72905400-72906000	Active TSS	Liver	Liver
16	chr12:72905400-72906000	Flanking Active TSS	NH-A	brain
17	chr12:72905600-72905800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:72905600-72905800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:72905600-72905800	Active TSS	Adipose Nuclei	Adipose
20	chr12:72905600-72906000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:72905600-72906000	Enhancers	Fetal Lung	lung
22	chr12:72905800-72906000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:72905800-72906000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:72905800-72906000	Enhancers	Pancreas	Pancrea
25	chr12:72905800-72906200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:72905800-72906200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:72905800-72906800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:72905800-72910800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:72906000-72906200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:72906000-72917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:72907000-72907200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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