Variant report

Variant	nsv557787
Chromosome Location	chr12:24940884-24947515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 281 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2883333	chr12:24940884-24940885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536361689	chr12:24940889-24940890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11047632	chr12:24940925-24940926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576212562	chr12:24940930-24940931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369167171	chr12:24940953-24940954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554969414	chr12:24940955-24940956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565216077	chr12:24940967-24940968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577215948	chr12:24940970-24940971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191788845	chr12:24941031-24941032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568495880	chr12:24941078-24941079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183191084	chr12:24941079-24941080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377446711	chr12:24941106-24941107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143185253	chr12:24941129-24941130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148098566	chr12:24941147-24941148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374736394	chr12:24941170-24941171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75593164	chr12:24941209-24941210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531177146	chr12:24941214-24941215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553732315	chr12:24941226-24941227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554203186	chr12:24941261-24941262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539229508	chr12:24941263-24941264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112417309	chr12:24941293-24941294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75171334	chr12:24941323-24941324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146273541	chr12:24941378-24941379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546953867	chr12:24941384-24941385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139166236	chr12:24941399-24941400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187518503	chr12:24941407-24941408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554693692	chr12:24941425-24941426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576144924	chr12:24941426-24941427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200315315	chr12:24941434-24941435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537199910	chr12:24941442-24941443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4963591	chr12:24941474-24941475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577178835	chr12:24941618-24941619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190880178	chr12:24941638-24941639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202136742	chr12:24941657-24941658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143075438	chr12:24941660-24941661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77686926	chr12:24941662-24941663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147518941	chr12:24941711-24941712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530912476	chr12:24941891-24941892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183451773	chr12:24941898-24941899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375046674	chr12:24941917-24941918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564354698	chr12:24941918-24941919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528743850	chr12:24941926-24941927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79711847	chr12:24941947-24941948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565534530	chr12:24941965-24941966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187768569	chr12:24941987-24941988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547883827	chr12:24942012-24942013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569708144	chr12:24942027-24942028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10771119	chr12:24942028-24942029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs201410568	chr12:24942056-24942057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570690220	chr12:24942107-24942108	Enhancers 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
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:22 , 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	chr12:24941600-24942000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:24941600-24942000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:24941600-24942400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:24942000-24948400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:24942400-24943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:24943400-24944800	Enhancers	Liver	Liver
8	chr12:24943600-24944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:24944000-24948200	Enhancers	Dnd41	blood
10	chr12:24944600-24945000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:24944600-24945000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:24944600-24945400	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:24944800-24948400	Weak transcription	Liver	Liver
14	chr12:24945000-24945600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:24945000-24948400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:24945000-24948600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:24945400-24945600	Enhancers	Fetal Lung	lung
18	chr12:24945400-24948600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:24945600-24946400	Weak transcription	Fetal Lung	lung
20	chr12:24946400-24946800	Enhancers	Fetal Lung	lung
21	chr12:24946600-24947000	Enhancers	Fetal Kidney	kidney
22	chr12:24947000-24950600	Weak transcription	Fetal Kidney	kidney

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