Variant report

Variant	esv3338497
Chromosome Location	chr12:72986485-72990883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576384867	chr12:72986489-72986490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398076743	chr12:72986499-72986500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398044498	chr12:72986500-72986501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182708259	chr12:72986521-72986522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544759170	chr12:72986548-72986549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184992414	chr12:72986554-72986555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144305734	chr12:72986565-72986566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548430713	chr12:72986583-72986584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368801426	chr12:72986595-72986596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535391401	chr12:72986615-72986616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2367748	chr12:72986632-72986633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570352972	chr12:72986637-72986638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537505049	chr12:72986647-72986648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568677755	chr12:72986652-72986653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555840437	chr12:72986679-72986680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538046166	chr12:72986684-72986685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567686931	chr12:72986692-72986693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535123703	chr12:72986696-72986697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553766304	chr12:72986744-72986745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2367747	chr12:72986764-72986765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2367746	chr12:72986773-72986774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559188117	chr12:72986782-72986783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577524341	chr12:72986784-72986785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113032590	chr12:72986785-72986786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562986051	chr12:72986789-72986790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530246721	chr12:72986804-72986805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541836031	chr12:72986851-72986852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560579618	chr12:72986852-72986853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182489728	chr12:72986876-72986877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145879827	chr12:72986894-72986895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563889009	chr12:72986933-72986934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539443876	chr12:72986950-72986951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73336704	chr12:72986963-72986964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549434267	chr12:72986971-72986972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376761886	chr12:72986980-72986981	Enhancers	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72964400-72986800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:72986800-72987000	Enhancers	Fetal Intestine Large	intestine

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