Variant report

Variant	esv1828346
Chromosome Location	chr12:8596763-8600680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841584	chr12:8596763-8596764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144124942	chr12:8596782-8596783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7956675	chr12:8596792-8596793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs147317945	chr12:8596856-8596857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201241345	chr12:8596887-8596888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7956810	chr12:8596895-8596896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11045366	chr12:8597024-8597025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373206172	chr12:8597042-8597043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112082893	chr12:8597096-8597097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528632447	chr12:8597151-8597152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375748173	chr12:8597155-8597156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540738136	chr12:8597156-8597157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563793152	chr12:8597213-8597214	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189626768	chr12:8597218-8597219	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11612983	chr12:8597286-8597287	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549791553	chr12:8597314-8597315	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10743385	chr12:8597394-8597395	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529216016	chr12:8597423-8597424	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554749147	chr12:8597554-8597555	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181557061	chr12:8597559-8597560	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10770686	chr12:8597573-8597574	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113816463	chr12:8597585-8597586	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376154029	chr12:8597619-8597620	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370788220	chr12:8597622-8597623	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10743386	chr12:8597645-8597646	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372687265	chr12:8597751-8597752	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369433839	chr12:8597760-8597761	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375958027	chr12:8597771-8597772	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114840247	chr12:8597798-8597799	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111388104	chr12:8597814-8597815	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368957844	chr12:8597815-8597816	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186906758	chr12:8597854-8597855	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116324831	chr12:8597893-8597894	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs61920532	chr12:8597902-8597903	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199946340	chr12:8597939-8597940	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189755044	chr12:8597984-8597985	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181173481	chr12:8598058-8598059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571758584	chr12:8598103-8598104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546088222	chr12:8598176-8598177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147083138	chr12:8598179-8598180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4423257	chr12:8598206-8598207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144162173	chr12:8598214-8598215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61920533	chr12:8598272-8598273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186620178	chr12:8598308-8598309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189555048	chr12:8598312-8598313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61920534	chr12:8598324-8598325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368205011	chr12:8598331-8598332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536568741	chr12:8598337-8598338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61920535	chr12:8598342-8598343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573107244	chr12:8598346-8598347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8597200-8598000	Active TSS	A549	lung
4	chr12:8599800-8600000	Enhancers	Placenta	Placenta
5	chr12:8600000-8601000	Weak transcription	Placenta	Placenta

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