Variant report

Variant	nsv975546
Chromosome Location	chr12:8410634-8412138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7488502	chr12:8410659-8410660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112063419	chr12:8410666-8410667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182359299	chr12:8410769-8410770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2714096	chr12:8410813-8410814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149904124	chr12:8410833-8410834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144923407	chr12:8410877-8410878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2719019	chr12:8410893-8410894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74060170	chr12:8411016-8411017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74060171	chr12:8411017-8411018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2719018	chr12:8411050-8411051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368585757	chr12:8411105-8411106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138679882	chr12:8411195-8411196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181633169	chr12:8411225-8411226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572338202	chr12:8411279-8411280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556276891	chr12:8411355-8411356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61266128	chr12:8411359-8411360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545087458	chr12:8411363-8411364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78564643	chr12:8411367-8411368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200327705	chr12:8411391-8411392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201570172	chr12:8411394-8411395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57906126	chr12:8411395-8411396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199638643	chr12:8411399-8411400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147018388	chr12:8411447-8411448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185576653	chr12:8411508-8411509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541005146	chr12:8411571-8411572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369834547	chr12:8411615-8411616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148031659	chr12:8411630-8411631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370964922	chr12:8411657-8411658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533017783	chr12:8411704-8411705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10841095	chr12:8411705-8411706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563393756	chr12:8411731-8411732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2953214	chr12:8411749-8411750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188582669	chr12:8411800-8411801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113180856	chr12:8411856-8411857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371463592	chr12:8411871-8411872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138762251	chr12:8411875-8411876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529365942	chr12:8411884-8411885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548930156	chr12:8412028-8412029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562457316	chr12:8412041-8412042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7315794	chr12:8412117-8412118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8396800-8417000	Weak transcription	Ovary	ovary
2	chr12:8396800-8422800	Weak transcription	Pancreas	Pancrea
3	chr12:8397000-8413600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:8397000-8414800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:8399400-8412400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:8400000-8412400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:8405600-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:8407600-8413800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:8412000-8412600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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