Variant report

Variant	esv3447492
Chromosome Location	chr12:21020835-21022783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189969072	chr12:21020876-21020877	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180925217	chr12:21020902-21020903	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2196028	chr12:21020906-21020907	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs553140988	chr12:21020911-21020912	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146755096	chr12:21020920-21020921	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75213558	chr12:21020931-21020932	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538210455	chr12:21020938-21020939	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185174232	chr12:21020963-21020964	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74588265	chr12:21020988-21020989	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560503241	chr12:21020995-21020996	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78909944	chr12:21021002-21021003	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190709697	chr12:21021072-21021073	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367983233	chr12:21021109-21021110	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140434140	chr12:21021193-21021194	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552197964	chr12:21021202-21021203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371678908	chr12:21021215-21021216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184199971	chr12:21021235-21021236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566493141	chr12:21021245-21021246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548605404	chr12:21021248-21021249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566761418	chr12:21021259-21021260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568423657	chr12:21021305-21021306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150189318	chr12:21021323-21021324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116433971	chr12:21021351-21021352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7978115	chr12:21021372-21021373	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546185339	chr12:21021399-21021400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56062761	chr12:21021417-21021418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138730542	chr12:21021422-21021423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568617520	chr12:21021430-21021431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537509324	chr12:21021460-21021461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188754958	chr12:21021482-21021483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76207182	chr12:21021495-21021496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11045569	chr12:21021538-21021539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs67649209	chr12:21021550-21021551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10770755	chr12:21021551-21021552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577453990	chr12:21021559-21021560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11045570	chr12:21021565-21021566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138248310	chr12:21021603-21021604	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61379713	chr12:21021604-21021605	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10841680	chr12:21021647-21021648	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10841681	chr12:21021655-21021656	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535188976	chr12:21021667-21021668	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551078450	chr12:21021668-21021669	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542307465	chr12:21021676-21021677	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562085312	chr12:21021716-21021717	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527719968	chr12:21021721-21021722	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547761485	chr12:21021741-21021742	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10841682	chr12:21021757-21021758	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532389956	chr12:21021760-21021761	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551965687	chr12:21021761-21021762	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10841683	chr12:21021762-21021763	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:21020600-21027400	Weak transcription	A549	lung
3	chr12:21020800-21021200	Strong transcription	Liver	Liver
4	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:21021200-21024600	Weak transcription	Liver	Liver
6	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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