Variant report

Variant	nsv557780
Chromosome Location	chr12:24939454-24941381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2200505	chr12:24939454-24939455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61913090	chr12:24939469-24939470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550164616	chr12:24939470-24939471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571623384	chr12:24939537-24939538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115783900	chr12:24939599-24939600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79226242	chr12:24939672-24939673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184936341	chr12:24939726-24939727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190864876	chr12:24939746-24939747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7311300	chr12:24939751-24939752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576686911	chr12:24939759-24939760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7311308	chr12:24939774-24939775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113728080	chr12:24939777-24939778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200884751	chr12:24939783-24939784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66650597	chr12:24939784-24939785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202204429	chr12:24939785-24939786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544743321	chr12:24939791-24939792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559912642	chr12:24939799-24939800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112145060	chr12:24939822-24939823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555109944	chr12:24939840-24939841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527510872	chr12:24939850-24939851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs63330860	chr12:24939859-24939860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540071141	chr12:24939880-24939881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560990638	chr12:24939883-24939884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531657395	chr12:24939899-24939900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79130412	chr12:24939924-24939925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571679954	chr12:24939925-24939926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532644853	chr12:24939942-24939943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146697009	chr12:24939969-24939970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181215860	chr12:24939998-24939999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536408007	chr12:24940015-24940016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577092841	chr12:24940036-24940037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555164496	chr12:24940062-24940063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140262341	chr12:24940154-24940155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113420926	chr12:24940155-24940156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570204128	chr12:24940193-24940194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7314901	chr12:24940221-24940222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373751881	chr12:24940228-24940229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545868480	chr12:24940247-24940248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577264419	chr12:24940254-24940255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544681902	chr12:24940280-24940281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111926317	chr12:24940290-24940291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553485017	chr12:24940298-24940299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7314694	chr12:24940303-24940304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531219640	chr12:24940320-24940321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186488531	chr12:24940332-24940333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75100237	chr12:24940383-24940384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7314937	chr12:24940428-24940429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543741891	chr12:24940443-24940444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7315240	chr12:24940450-24940451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73073707	chr12:24940461-24940462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24934400-24945000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:24939200-24940000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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