Variant report

Variant	esv15301
Chromosome Location	chr12:29956430-29960234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181173956	chr12:29958857-29958858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370169752	chr12:29958859-29958860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527694249	chr12:29958926-29958927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377459228	chr12:29958929-29958930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549056596	chr12:29958951-29958952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186535526	chr12:29958965-29958966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537625606	chr12:29958987-29958988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546372740	chr12:29959098-29959099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545460452	chr12:29959099-29959100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74237104	chr12:29959122-29959123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7296907	chr12:29959123-29959124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11050447	chr12:29959145-29959146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554047378	chr12:29959172-29959173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550864751	chr12:29959231-29959232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11613161	chr12:29959233-29959234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542694358	chr12:29959261-29959262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539450199	chr12:29959271-29959272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11050448	chr12:29959294-29959295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11050449	chr12:29959296-29959297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543558533	chr12:29959306-29959307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74647610	chr12:29959344-29959345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557689922	chr12:29959375-29959376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533574275	chr12:29959418-29959419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139836950	chr12:29959427-29959428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200949510	chr12:29959448-29959449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527675086	chr12:29959487-29959488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548991136	chr12:29959508-29959509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561028041	chr12:29959520-29959521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142048886	chr12:29959532-29959533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549882589	chr12:29959533-29959534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191002155	chr12:29959562-29959563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151230967	chr12:29959563-29959564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534329800	chr12:29959600-29959601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547374159	chr12:29959601-29959602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565996607	chr12:29959621-29959622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575566914	chr12:29959655-29959656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544354793	chr12:29959659-29959660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554571411	chr12:29959669-29959670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576130031	chr12:29959674-29959675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369003	chr12:29959697-29959698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558627381	chr12:29959702-29959703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11050450	chr12:29959752-29959753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545630353	chr12:29959768-29959769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560599000	chr12:29959787-29959788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544451708	chr12:29959789-29959790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182400028	chr12:29959794-29959795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556901851	chr12:29959795-29959796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560916921	chr12:29959806-29959807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11050451	chr12:29959812-29959813	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549999535	chr12:29959815-29959816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29958800-29960000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:29959200-29959800	Enhancers	Hela-S3	cervix
3	chr12:29959600-29960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:29959800-29960200	Weak transcription	Hela-S3	cervix
5	chr12:29959800-29960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:29960200-29962600	Enhancers	Hela-S3	cervix

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