Variant report

Variant	nsv557733
Chromosome Location	chr12:21353317-21361868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:
2	chr12:21354085..21355966-chr12:21358587..21360653,2	K562	blood:

Extended variants
information (count: 353 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12312746	chr12:21353317-21353318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12305699	chr12:21353330-21353331	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560409404	chr12:21353342-21353343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554787528	chr12:21353347-21353348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532748194	chr12:21353360-21353361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377526914	chr12:21353362-21353363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145609093	chr12:21353368-21353369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200611821	chr12:21353413-21353414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151155254	chr12:21353452-21353453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77871475	chr12:21353471-21353472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72559747	chr12:21353478-21353479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113495867	chr12:21353483-21353484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61760243	chr12:21353505-21353506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145167231	chr12:21353506-21353507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146867151	chr12:21353514-21353515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55901008	chr12:21353529-21353530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147750118	chr12:21353547-21353548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140674443	chr12:21353551-21353552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57040246	chr12:21353557-21353558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377208842	chr12:21353578-21353579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140270687	chr12:21353620-21353621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369729507	chr12:21353626-21353627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78755070	chr12:21353629-21353630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376154971	chr12:21353634-21353635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12319213	chr12:21353648-21353649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373407344	chr12:21353652-21353653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12305884	chr12:21353672-21353673	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376988567	chr12:21353694-21353695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555950420	chr12:21353703-21353704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575902719	chr12:21353710-21353711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4149065	chr12:21353718-21353719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191312515	chr12:21353724-21353725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576961950	chr12:21353743-21353744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555408686	chr12:21353782-21353783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12305852	chr12:21353788-21353789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182047723	chr12:21353799-21353800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12319308	chr12:21353826-21353827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577422630	chr12:21353831-21353832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541950556	chr12:21353832-21353833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546370178	chr12:21353848-21353849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4149066	chr12:21353872-21353873	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188961481	chr12:21353910-21353911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4149067	chr12:21353911-21353912	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112003722	chr12:21353942-21353943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562274213	chr12:21353972-21353973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76945189	chr12:21353978-21353979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547119002	chr12:21354013-21354014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113377671	chr12:21354031-21354032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193243788	chr12:21354104-21354105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570316058	chr12:21354108-21354109	Weak transcription Strong 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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21345800-21361800	Strong transcription	Liver	Liver
2	chr12:21351000-21360600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:21361800-21367800	Weak transcription	Liver	Liver

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