Variant report

Variant	esv2830227
Chromosome Location	chr12:30237954-30241143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16935372	chr12:30237954-30237955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191375035	chr12:30237994-30237995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571984764	chr12:30238043-30238044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139268862	chr12:30238048-30238049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563966467	chr12:30238053-30238054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145060895	chr12:30238058-30238059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561026656	chr12:30238073-30238074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34037000	chr12:30238177-30238178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544768242	chr12:30238178-30238179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34853733	chr12:30238182-30238183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146807294	chr12:30238214-30238215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533641772	chr12:30238225-30238226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111349296	chr12:30238228-30238229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140524393	chr12:30238248-30238249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560321760	chr12:30238311-30238312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189464673	chr12:30238362-30238363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182217113	chr12:30238370-30238371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1825523	chr12:30238371-30238372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537660342	chr12:30238420-30238421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187201688	chr12:30238438-30238439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571228481	chr12:30238469-30238470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538573989	chr12:30238489-30238490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145629428	chr12:30238510-30238511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571983440	chr12:30238515-30238516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536238767	chr12:30238534-30238535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550473463	chr12:30238572-30238573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554369349	chr12:30238582-30238583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190095449	chr12:30238591-30238592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544842675	chr12:30238626-30238627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563105217	chr12:30238644-30238645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551350419	chr12:30238713-30238714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578208278	chr12:30238733-30238734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545420623	chr12:30238736-30238737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560836755	chr12:30238737-30238738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527689590	chr12:30238812-30238813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542968943	chr12:30238874-30238875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148173867	chr12:30238974-30238975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560802319	chr12:30239065-30239066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142006918	chr12:30239080-30239081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531665157	chr12:30239086-30239087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79419471	chr12:30239092-30239093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150255367	chr12:30239093-30239094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532166466	chr12:30239141-30239142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547419278	chr12:30239171-30239172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73086910	chr12:30239186-30239187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181800495	chr12:30239198-30239199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76034020	chr12:30239218-30239219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76038184	chr12:30239222-30239223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537179590	chr12:30239244-30239245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138897528	chr12:30239258-30239259	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:30239600-30240000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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