Variant report

Variant	esv10499
Chromosome Location	chr12:72758024-72765117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 243 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562043093	chr12:72758208-72758209	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529289307	chr12:72758228-72758229	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs61926583	chr12:72758297-72758298	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114234667	chr12:72758299-72758300	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184553116	chr12:72758304-72758305	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76588635	chr12:72758321-72758322	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536856196	chr12:72758338-72758339	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188969432	chr12:72758396-72758397	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs545710580	chr12:72758414-72758415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537236432	chr12:72758417-72758418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181972249	chr12:72758480-72758481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs956057	chr12:72758492-72758493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77800804	chr12:72758512-72758513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372772847	chr12:72758609-72758610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143609592	chr12:72758663-72758664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527753700	chr12:72758669-72758670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552956988	chr12:72758682-72758683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376498478	chr12:72758698-72758699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7137812	chr12:72758742-72758743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538761077	chr12:72758750-72758751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556759492	chr12:72758772-72758773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576276868	chr12:72758790-72758791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543601688	chr12:72758909-72758910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555493546	chr12:72758925-72758926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137859752	chr12:72759048-72759049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553573340	chr12:72759071-72759072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146215197	chr12:72759079-72759080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77502093	chr12:72759202-72759203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10431587	chr12:72759236-72759237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545153412	chr12:72759256-72759257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533150552	chr12:72759282-72759283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545528272	chr12:72759314-72759315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563762026	chr12:72759345-72759346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530983358	chr12:72759357-72759358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184859895	chr12:72759358-72759359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189284442	chr12:72759375-72759376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17111099	chr12:72759427-72759428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74682934	chr12:72759547-72759548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571250334	chr12:72759549-72759550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570279295	chr12:72759550-72759551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138620240	chr12:72759571-72759572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142940452	chr12:72759586-72759587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552460150	chr12:72759591-72759592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535914631	chr12:72759614-72759615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555555513	chr12:72759630-72759631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573879697	chr12:72759657-72759658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367787433	chr12:72759661-72759662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113230483	chr12:72759664-72759665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150674598	chr12:72759674-72759675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563245210	chr12:72759832-72759833	Weak transcription	n/a	n/a	Overlapped CNVs	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72758200-72758400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:72758400-72758600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:72758400-72758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:72758400-72758600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:72758600-72762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:72758600-72781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:72761000-72761200	Enhancers	Pancreas	Pancrea
8	chr12:72761200-72771200	Weak transcription	Pancreas	Pancrea
9	chr12:72761400-72765000	Enhancers	Fetal Intestine Large	intestine
10	chr12:72762400-72763000	Enhancers	Fetal Kidney	kidney
11	chr12:72762400-72764800	Enhancers	Fetal Intestine Small	intestine
12	chr12:72762600-72762800	Enhancers	Adipose Nuclei	Adipose
13	chr12:72762600-72763200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:72762600-72763600	Enhancers	Ovary	ovary
15	chr12:72762800-72783600	Weak transcription	Adipose Nuclei	Adipose
16	chr12:72763000-72764000	Weak transcription	Fetal Kidney	kidney
17	chr12:72763000-72764800	Enhancers	Small Intestine	intestine
18	chr12:72763000-72783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:72763200-72764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:72763200-72773400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:72764000-72764200	Enhancers	Fetal Kidney	kidney
22	chr12:72764200-72787000	Weak transcription	Fetal Kidney	kidney
23	chr12:72764600-72764800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:72764800-72787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:72765000-72782400	Weak transcription	Fetal Intestine Large	intestine

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