Variant report

Variant	nsv557888
Chromosome Location	chr12:29158183-29163291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386761505	chr12:29158183-29158184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113863553	chr12:29158184-29158185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74076209	chr12:29158185-29158186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184233761	chr12:29158192-29158193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574714656	chr12:29158197-29158198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543129116	chr12:29158242-29158243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538249343	chr12:29158257-29158258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557221921	chr12:29158303-29158304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556686485	chr12:29158314-29158315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112187643	chr12:29158316-29158317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575587648	chr12:29158336-29158337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180893693	chr12:29158407-29158408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536461219	chr12:29158410-29158411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117324711	chr12:29158412-29158413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565319870	chr12:29158456-29158457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144838819	chr12:29158474-29158475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548097948	chr12:29158481-29158482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73070471	chr12:29158493-29158494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138684588	chr12:29158530-29158531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548392946	chr12:29158594-29158595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184547614	chr12:29158604-29158605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536757278	chr12:29158615-29158616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576789058	chr12:29158623-29158624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140325943	chr12:29158627-29158628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576821616	chr12:29158636-29158637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558977541	chr12:29158638-29158639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189335631	chr12:29158662-29158663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534594491	chr12:29158672-29158673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373794311	chr12:29158710-29158711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574040321	chr12:29158721-29158722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553269704	chr12:29158740-29158741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181546241	chr12:29158743-29158744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542019565	chr12:29158786-29158787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557197798	chr12:29158792-29158793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187125886	chr12:29158797-29158798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12228134	chr12:29158798-29158799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191104169	chr12:29158802-29158803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73070475	chr12:29158857-29158858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181505137	chr12:29158873-29158874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559587712	chr12:29158884-29158885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186450339	chr12:29158894-29158895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548331818	chr12:29158904-29158905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11049984	chr12:29158915-29158916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73070476	chr12:29158921-29158922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150803397	chr12:29158937-29158938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182316051	chr12:29158966-29158967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568169301	chr12:29161421-29161422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535563386	chr12:29161437-29161438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145334160	chr12:29161532-29161533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181983599	chr12:29161545-29161546	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	21248843	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	21364760	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	chr12:29157600-29159000	Enhancers	Brain Germinal Matrix	brain
2	chr12:29161400-29162400	Enhancers	HMEC	breast
3	chr12:29161400-29162400	Enhancers	NHEK	skin
4	chr12:29161600-29162400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:29161600-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:29161800-29162400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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