Variant report

Variant	nsv557734
Chromosome Location	chr12:21421255-21425513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4149007	chr12:21421255-21421256	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565650736	chr12:21421269-21421270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34400572	chr12:21421286-21421287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573642709	chr12:21421288-21421289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138541591	chr12:21421325-21421326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561751635	chr12:21421333-21421334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12317843	chr12:21421343-21421344	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141354552	chr12:21421354-21421355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564447706	chr12:21421364-21421365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143865125	chr12:21421387-21421388	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550436580	chr12:21421390-21421391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143879363	chr12:21421412-21421413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536157940	chr12:21421433-21421434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148620600	chr12:21421444-21421445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73250847	chr12:21421458-21421459	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565687014	chr12:21421524-21421525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534393245	chr12:21421525-21421526	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557813044	chr12:21421585-21421586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571289818	chr12:21421620-21421621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115656549	chr12:21421655-21421656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556786788	chr12:21421702-21421703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573554860	chr12:21421730-21421731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146227079	chr12:21421764-21421765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4149006	chr12:21421770-21421771	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs112403792	chr12:21421780-21421781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541099147	chr12:21421857-21421858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183538288	chr12:21421864-21421865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371526459	chr12:21421898-21421899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564593129	chr12:21421991-21421992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146016569	chr12:21422002-21422003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542016285	chr12:21422008-21422009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62925760	chr12:21422012-21422013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139983960	chr12:21422016-21422017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140638980	chr12:21422039-21422040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563880381	chr12:21422061-21422062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs41275202	chr12:21422065-21422066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115732289	chr12:21422140-21422141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149146269	chr12:21422169-21422170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369845166	chr12:21422177-21422178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566271897	chr12:21422206-21422207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528074120	chr12:21422207-21422208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11045919	chr12:21422253-21422254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571318999	chr12:21422272-21422273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74066041	chr12:21422319-21422320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556698938	chr12:21422340-21422341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141698628	chr12:21422353-21422354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4140389	chr12:21422365-21422366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553214457	chr12:21422372-21422373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187581114	chr12:21422375-21422376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138517568	chr12:21422414-21422415	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21417000-21429800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:21417200-21425800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:21420000-21421800	Strong transcription	Liver	Liver
7	chr12:21421800-21425800	Weak transcription	Liver	Liver
8	chr12:21422600-21447200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:21423000-21423400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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