Variant report

Variant	esv11198
Chromosome Location	chr12:30496609-30508640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:

Extended variants
information (count: 515 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386761639	chr12:30498219-30498220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146859089	chr12:30498226-30498227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11050839	chr12:30498230-30498231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530756126	chr12:30498250-30498251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186081191	chr12:30498294-30498295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs354151	chr12:30498300-30498301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564304802	chr12:30498301-30498302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190888630	chr12:30498318-30498319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11050840	chr12:30498332-30498333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11050841	chr12:30498336-30498337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11050842	chr12:30498346-30498347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548559955	chr12:30498356-30498357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12579317	chr12:30498378-30498379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537388686	chr12:30498399-30498400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79659615	chr12:30498425-30498426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371654138	chr12:30498426-30498427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534757067	chr12:30498439-30498440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117654921	chr12:30498449-30498450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140661309	chr12:30498494-30498495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528711925	chr12:30498498-30498499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181888527	chr12:30498504-30498505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575475446	chr12:30498521-30498522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374016171	chr12:30498544-30498545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545816789	chr12:30498643-30498644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564241642	chr12:30498649-30498650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs354152	chr12:30498657-30498658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540284725	chr12:30498708-30498709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561776730	chr12:30498715-30498716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11050843	chr12:30498718-30498719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550546177	chr12:30498737-30498738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12579379	chr12:30498752-30498753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs354153	chr12:30498780-30498781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11050844	chr12:30498892-30498893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529208523	chr12:30498905-30498906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11050845	chr12:30498932-30498933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145745998	chr12:30498955-30498956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10843729	chr12:30498956-30498957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568213252	chr12:30498978-30498979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111583588	chr12:30498981-30498982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12580685	chr12:30498982-30498983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146455987	chr12:30498991-30498992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575567962	chr12:30499058-30499059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551721410	chr12:30499141-30499142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555479336	chr12:30499142-30499143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149049950	chr12:30499146-30499147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35061228	chr12:30499151-30499152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372437994	chr12:30499152-30499153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540420846	chr12:30499175-30499176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77430034	chr12:30499184-30499185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191297107	chr12:30499191-30499192	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30498200-30501400	Enhancers	Fetal Heart	heart
2	chr12:30498600-30499200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
4	chr12:30503800-30505200	Enhancers	Liver	Liver
5	chr12:30508200-30508600	Enhancers	Placenta	Placenta

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