Variant report

Variant	esv3420073
Chromosome Location	chr12:20548085-20549283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536054874	chr12:20548094-20548095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142022139	chr12:20548129-20548130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111492261	chr12:20548421-20548422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150502055	chr12:20548445-20548446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558257326	chr12:20548459-20548460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139820594	chr12:20548461-20548462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200823176	chr12:20548510-20548511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5018301	chr12:20548522-20548523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146213564	chr12:20548526-20548527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564320233	chr12:20548537-20548538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575058988	chr12:20548564-20548565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540834832	chr12:20548571-20548572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10636283	chr12:20548622-20548623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386375830	chr12:20548632-20548633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5796857	chr12:20548639-20548640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192705236	chr12:20548640-20548641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184747610	chr12:20548688-20548689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189153980	chr12:20548749-20548750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1444642	chr12:20548751-20548752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531628772	chr12:20548780-20548781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139245021	chr12:20548781-20548782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77263579	chr12:20548834-20548835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1444641	chr12:20548843-20548844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192197108	chr12:20548847-20548848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149927201	chr12:20548891-20548892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566698375	chr12:20548897-20548898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184229197	chr12:20548909-20548910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552285164	chr12:20548929-20548930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1444640	chr12:20548958-20548959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145017474	chr12:20548962-20548963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73234007	chr12:20548988-20548989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149104602	chr12:20549066-20549067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114049229	chr12:20549073-20549074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554071161	chr12:20549128-20549129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1444639	chr12:20549164-20549165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs545963994	chr12:20549224-20549225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117425847	chr12:20549231-20549232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372736818	chr12:20549244-20549245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190180103	chr12:20549275-20549276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	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	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20550400	Weak transcription	HUVEC	blood vessel
2	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
3	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
4	chr12:20543000-20549200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20543000-20551000	Weak transcription	A549	lung
6	chr12:20544000-20556000	Weak transcription	Osteobl	bone
7	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:20546000-20549200	Weak transcription	Right Ventricle	heart
9	chr12:20546200-20548200	Strong transcription	Hela-S3	cervix
10	chr12:20546400-20548200	Enhancers	Fetal Intestine Large	intestine
11	chr12:20546600-20548400	Enhancers	Fetal Intestine Small	intestine
12	chr12:20546800-20548200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr12:20547800-20548200	Enhancers	Fetal Heart	heart
14	chr12:20548000-20549200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:20548200-20549000	Weak transcription	Fetal Heart	heart
16	chr12:20548200-20550800	Weak transcription	Hela-S3	cervix
17	chr12:20548200-20556000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:20548400-20548800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:20548800-20549000	Enhancers	Fetal Intestine Small	intestine
20	chr12:20549000-20549200	Enhancers	Fetal Heart	heart
21	chr12:20549000-20549400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:20549000-20553200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:20549000-20555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:20549200-20549400	Enhancers	Right Ventricle	heart
25	chr12:20549200-20549400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:20549200-20549600	Weak transcription	Fetal Heart	heart
27	chr12:20549200-20550400	Enhancers	Rectal Mucosa Donor 31	rectum

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