Variant report

Variant	esv3419963
Chromosome Location	chr12:22123788-22128847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565940295	chr12:22124092-22124093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74069841	chr12:22124108-22124109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7961604	chr12:22124233-22124234	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149401422	chr12:22124313-22124314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs16924490	chr12:22124382-22124383	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557150467	chr12:22124412-22124413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573374735	chr12:22124418-22124419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77423879	chr12:22124472-22124473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552893611	chr12:22124598-22124599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144800933	chr12:22124695-22124696	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540433899	chr12:22124698-22124699	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545034269	chr12:22124733-22124734	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564885722	chr12:22124766-22124767	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556439943	chr12:22124773-22124774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192729783	chr12:22124786-22124787	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544386933	chr12:22124799-22124800	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567837832	chr12:22124889-22124890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561086479	chr12:22124898-22124899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373564349	chr12:22124964-22124965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529356846	chr12:22124999-22125000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549504915	chr12:22125025-22125026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148581649	chr12:22125034-22125035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528457025	chr12:22125040-22125041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111562715	chr12:22125072-22125073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368693971	chr12:22125099-22125100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375239358	chr12:22125116-22125117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183131732	chr12:22125121-22125122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537372559	chr12:22125177-22125178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550716384	chr12:22125196-22125197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567528959	chr12:22125215-22125216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187669764	chr12:22125216-22125217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143025241	chr12:22125250-22125251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572923193	chr12:22125314-22125315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555511132	chr12:22125388-22125389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146159613	chr12:22125447-22125448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143637879	chr12:22125467-22125468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113746230	chr12:22125532-22125533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575579671	chr12:22125546-22125547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185038001	chr12:22125614-22125615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372280984	chr12:22125661-22125662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139787006	chr12:22125676-22125677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561022201	chr12:22125704-22125705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115455537	chr12:22125706-22125707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74501922	chr12:22125716-22125717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541559352	chr12:22125750-22125751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559581493	chr12:22125784-22125785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187846433	chr12:22125789-22125790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192331937	chr12:22125809-22125810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565285240	chr12:22125853-22125854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531070236	chr12:22125856-22125857	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22124000-22124200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:22124000-22124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:22124000-22124800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:22124000-22125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:22124000-22125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:22124000-22125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:22124200-22124400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:22124200-22124600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:22124200-22124600	Enhancers	Fetal Kidney	kidney
10	chr12:22124200-22124800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:22124200-22124800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr12:22124200-22124800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:22124200-22124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:22124200-22125000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:22124200-22125000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:22124200-22125200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:22124400-22124600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:22124400-22124800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:22124400-22126000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:22124600-22124800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:22124600-22125800	Weak transcription	Fetal Kidney	kidney
22	chr12:22124800-22125000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:22126200-22126400	Enhancers	Fetal Kidney	kidney
24	chr12:22127000-22127400	Enhancers	Fetal Stomach	stomach
25	chr12:22127400-22127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:22127400-22127800	Enhancers	Ovary	ovary
27	chr12:22127600-22129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:22127800-22128800	Weak transcription	Ovary	ovary

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