Variant report

Variant	esv3508204
Chromosome Location	chr12:9016998-9018665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59220808	chr12:9017000-9017001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58652935	chr12:9017002-9017003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61919507	chr12:9017013-9017014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183587525	chr12:9017020-9017021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188572130	chr12:9017023-9017024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75355549	chr12:9017034-9017035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61553887	chr12:9017050-9017051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57748357	chr12:9017057-9017058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58518038	chr12:9017081-9017082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57056818	chr12:9017087-9017088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59316683	chr12:9017088-9017089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191304061	chr12:9017104-9017105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184399175	chr12:9017184-9017185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188988104	chr12:9017376-9017377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138219875	chr12:9017412-9017413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112501438	chr12:9017619-9017620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193126765	chr12:9017692-9017693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185268808	chr12:9017711-9017712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201843334	chr12:9017756-9017757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113241191	chr12:9017821-9017822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7975717	chr12:9017883-9017884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188786300	chr12:9017884-9017885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181565925	chr12:9017910-9017911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201402386	chr12:9017913-9017914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200967344	chr12:9017965-9017966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372846469	chr12:9018003-9018004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149555679	chr12:9018067-9018068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201622497	chr12:9018076-9018077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541237314	chr12:9018091-9018092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183880041	chr12:9018131-9018132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557955447	chr12:9018132-9018133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537322807	chr12:9018144-9018145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7978893	chr12:9018165-9018166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs578155064	chr12:9018241-9018242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543586339	chr12:9018259-9018260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144400356	chr12:9018337-9018338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148806677	chr12:9018366-9018367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373344168	chr12:9018371-9018372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10771135	chr12:9018476-9018477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10771136	chr12:9018485-9018486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116624991	chr12:9018494-9018495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529315325	chr12:9018535-9018536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142445738	chr12:9018620-9018621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114260264	chr12:9018632-9018633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10771137	chr12:9018639-9018640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559626308	chr12:9018649-9018650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188609709	chr12:9018661-9018662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:9011800-9021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:9012600-9020400	Weak transcription	Esophagus	oesophagus
11	chr12:9013600-9019200	Weak transcription	K562	blood
12	chr12:9013600-9029400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:9013800-9033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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