Variant report

Variant	esv3359083
Chromosome Location	chr12:21423635-21426783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71444112	chr12:21423653-21423654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56287042	chr12:21423654-21423655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3060625	chr12:21423655-21423656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397823918	chr12:21423656-21423657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560644642	chr12:21423670-21423671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531757171	chr12:21423718-21423719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192491108	chr12:21423735-21423736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568721085	chr12:21423743-21423744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546732558	chr12:21423846-21423847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539416760	chr12:21423881-21423882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35621428	chr12:21423884-21423885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7980842	chr12:21423951-21423952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142817381	chr12:21423978-21423979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7967354	chr12:21424003-21424004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377137358	chr12:21424021-21424022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149918015	chr12:21424032-21424033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184469560	chr12:21424053-21424054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113043595	chr12:21424126-21424127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10841782	chr12:21424137-21424138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190500283	chr12:21424153-21424154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536359120	chr12:21424156-21424157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143564745	chr12:21424171-21424172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61926247	chr12:21424174-21424175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7955581	chr12:21424271-21424272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542970747	chr12:21424325-21424326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565225782	chr12:21424385-21424386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150018371	chr12:21424392-21424393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141934944	chr12:21424393-21424394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10633168	chr12:21424398-21424399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569911977	chr12:21424413-21424414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543756986	chr12:21424440-21424441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193238808	chr12:21424504-21424505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12366423	chr12:21424526-21424527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12366425	chr12:21424537-21424538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529759876	chr12:21424545-21424546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148055734	chr12:21424586-21424587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10841783	chr12:21424587-21424588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563292950	chr12:21424588-21424589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539876661	chr12:21424618-21424619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532192762	chr12:21424654-21424655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2417971	chr12:21424661-21424662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs11045921	chr12:21424676-21424677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189023943	chr12:21424711-21424712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181369782	chr12:21424799-21424800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150823088	chr12:21424819-21424820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567570239	chr12:21425003-21425004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549196661	chr12:21425009-21425010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553174600	chr12:21425023-21425024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566992721	chr12:21425065-21425066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11045922	chr12:21425117-21425118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21417000-21429800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:21417200-21425800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:21421800-21425800	Weak transcription	Liver	Liver
7	chr12:21422600-21447200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:21425800-21426600	Strong transcription	Liver	Liver
9	chr12:21425800-21426600	Strong transcription	Brain Anterior Caudate	brain
10	chr12:21426000-21426800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:21426600-21429000	Weak transcription	Liver	Liver
12	chr12:21426600-21460400	Weak transcription	Brain Anterior Caudate	brain

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