Variant report

Variant	esv33466
Chromosome Location	chr12:30240075-30246179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565047006	chr12:30240119-30240120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200998801	chr12:30240144-30240145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139520931	chr12:30240145-30240146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199563746	chr12:30240146-30240147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112052935	chr12:30240147-30240148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572884957	chr12:30240195-30240196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34995474	chr12:30240213-30240214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577231346	chr12:30240227-30240228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190792778	chr12:30240266-30240267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566455487	chr12:30240295-30240296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559534831	chr12:30240306-30240307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148703727	chr12:30240324-30240325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183914569	chr12:30240377-30240378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188865754	chr12:30240430-30240431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565304567	chr12:30240449-30240450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193067417	chr12:30240453-30240454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201720493	chr12:30240489-30240490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59780129	chr12:30240579-30240580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534745630	chr12:30240587-30240588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374715182	chr12:30240596-30240597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199514960	chr12:30240631-30240632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566301798	chr12:30240636-30240637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183159443	chr12:30240659-30240660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139588095	chr12:30240664-30240665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554846179	chr12:30240736-30240737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12579602	chr12:30240765-30240766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537062755	chr12:30240811-30240812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544277572	chr12:30240815-30240816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113536356	chr12:30240828-30240829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148411104	chr12:30240866-30240867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541555787	chr12:30240891-30240892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187130918	chr12:30240993-30240994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574579377	chr12:30240998-30240999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113016503	chr12:30241005-30241006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542007593	chr12:30241091-30241092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79388491	chr12:30241105-30241106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532779067	chr12:30241131-30241132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551398700	chr12:30241138-30241139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530800108	chr12:30241139-30241140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11050642	chr12:30241143-30241144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564142266	chr12:30241156-30241157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527702205	chr12:30241159-30241160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56067927	chr12:30241197-30241198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191951895	chr12:30241204-30241205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11050643	chr12:30241213-30241214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536863540	chr12:30241230-30241231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560744679	chr12:30241272-30241273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548339847	chr12:30241301-30241302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184198417	chr12:30241321-30241322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10771631	chr12:30241370-30241371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:18 , 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	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30241400-30241800	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:30241400-30241800	Active TSS	Stomach Smooth Muscle	stomach
8	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30241600-30242000	Enhancers	HSMM	muscle
10	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:30242200-30243400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:30243400-30243600	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:30243600-30244200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:30244200-30244400	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:30244400-30244600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:30246000-30247400	Enhancers	Fetal Brain Male	brain
18	chr12:30246000-30247800	Enhancers	Fetal Brain Female	brain

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