Variant report

Variant	nsv528977
Chromosome Location	chr12:26033286-26034653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10842635	chr12:26033286-26033287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192655156	chr12:26033299-26033300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71878589	chr12:26033404-26033405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11401589	chr12:26033432-26033433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573104526	chr12:26033472-26033473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570205180	chr12:26033475-26033476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10618363	chr12:26033483-26033484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397850328	chr12:26033484-26033485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35070061	chr12:26033499-26033500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565217487	chr12:26033538-26033539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552293732	chr12:26033539-26033540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570785431	chr12:26033555-26033556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535023553	chr12:26033564-26033565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547243720	chr12:26033581-26033582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531082473	chr12:26033611-26033612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568391631	chr12:26033671-26033672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535686678	chr12:26033672-26033673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557121912	chr12:26033674-26033675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148866585	chr12:26033683-26033684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550878013	chr12:26033702-26033703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536699992	chr12:26033706-26033707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118108291	chr12:26033731-26033732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117835213	chr12:26033732-26033733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11048322	chr12:26033740-26033741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143547221	chr12:26033795-26033796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183669704	chr12:26033815-26033816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563427941	chr12:26034005-26034006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11048323	chr12:26034006-26034007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13378104	chr12:26034056-26034057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187873273	chr12:26034082-26034083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575722806	chr12:26034115-26034116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117698970	chr12:26034141-26034142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568454680	chr12:26034163-26034164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535742395	chr12:26034184-26034185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550763429	chr12:26034227-26034228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374196091	chr12:26034247-26034248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569067249	chr12:26034257-26034258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57561066	chr12:26034273-26034274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73088111	chr12:26034294-26034295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192211814	chr12:26034317-26034318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576852837	chr12:26034346-26034347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534656397	chr12:26034367-26034368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552692525	chr12:26034373-26034374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574788721	chr12:26034388-26034389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369232513	chr12:26034397-26034398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372850430	chr12:26034402-26034403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563489798	chr12:26034483-26034484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113587597	chr12:26034500-26034501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12831978	chr12:26034544-26034545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138185895	chr12:26034553-26034554	Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	17133270	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
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26028600-26034800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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