Variant report

Variant	esv18261
Chromosome Location	chr12:30237233-30243568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374223753	chr12:30237246-30237247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539830664	chr12:30237260-30237261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558327972	chr12:30237289-30237290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566804531	chr12:30237327-30237328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534008704	chr12:30237337-30237338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12578582	chr12:30237344-30237345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs727580	chr12:30237351-30237352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184786328	chr12:30237374-30237375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139613762	chr12:30237377-30237378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577266328	chr12:30237390-30237391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149727133	chr12:30237403-30237404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372250822	chr12:30237469-30237470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16935366	chr12:30237497-30237498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79321682	chr12:30237498-30237499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562171700	chr12:30237519-30237520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200608219	chr12:30237528-30237529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148099289	chr12:30237529-30237530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73086909	chr12:30237574-30237575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74083036	chr12:30237575-30237576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563170816	chr12:30237577-30237578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78876072	chr12:30237599-30237600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149176530	chr12:30237616-30237617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558242987	chr12:30237728-30237729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573908570	chr12:30237778-30237779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16935370	chr12:30237821-30237822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373298541	chr12:30237852-30237853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77774795	chr12:30237859-30237860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537648044	chr12:30237866-30237867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556044458	chr12:30237880-30237881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188789839	chr12:30237885-30237886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16935372	chr12:30237954-30237955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191375035	chr12:30237994-30237995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571984764	chr12:30238043-30238044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139268862	chr12:30238048-30238049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563966467	chr12:30238053-30238054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145060895	chr12:30238058-30238059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561026656	chr12:30238073-30238074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34037000	chr12:30238177-30238178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544768242	chr12:30238178-30238179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34853733	chr12:30238182-30238183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146807294	chr12:30238214-30238215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533641772	chr12:30238225-30238226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111349296	chr12:30238228-30238229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140524393	chr12:30238248-30238249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560321760	chr12:30238311-30238312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189464673	chr12:30238362-30238363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182217113	chr12:30238370-30238371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1825523	chr12:30238371-30238372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537660342	chr12:30238420-30238421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187201688	chr12:30238438-30238439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30237200-30237800	Enhancers	Stomach Smooth Muscle	stomach
2	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:30239600-30240000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:30241400-30241800	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:30241400-30241800	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:30241600-30242000	Enhancers	HSMM	muscle
12	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:30242200-30243400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:30243400-30243600	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--

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