Variant report

Variant	nsv557714
Chromosome Location	chr12:21022867-21036533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 635 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6487168	chr12:21022867-21022868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570279885	chr12:21022930-21022931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184082010	chr12:21022981-21022982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577704690	chr12:21023033-21023034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75621850	chr12:21023113-21023114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556888640	chr12:21023116-21023117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575939219	chr12:21023132-21023133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541685591	chr12:21023165-21023166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561754469	chr12:21023193-21023194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368726323	chr12:21023208-21023209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540852146	chr12:21023218-21023219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372817315	chr12:21023235-21023236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188005778	chr12:21023260-21023261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116464584	chr12:21023320-21023321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546346670	chr12:21023334-21023335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558054721	chr12:21023450-21023451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11045572	chr12:21023453-21023454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11045573	chr12:21023492-21023493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192285135	chr12:21023508-21023509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11519059	chr12:21023524-21023525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545289739	chr12:21023531-21023532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529601934	chr12:21023542-21023543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565146616	chr12:21023543-21023544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7137416	chr12:21023559-21023560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535265168	chr12:21023574-21023575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113435731	chr12:21023575-21023576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7137433	chr12:21023605-21023606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537106245	chr12:21023609-21023610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567321808	chr12:21023612-21023613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556950076	chr12:21023621-21023622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552381130	chr12:21023631-21023632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573669575	chr12:21023637-21023638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115465211	chr12:21023649-21023650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555668773	chr12:21023727-21023728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537672413	chr12:21023782-21023783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138394128	chr12:21023784-21023785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7137375	chr12:21023787-21023788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190220061	chr12:21023788-21023789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371425055	chr12:21023827-21023828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143929692	chr12:21023831-21023832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376856801	chr12:21023859-21023860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528933202	chr12:21023886-21023887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548694948	chr12:21023900-21023901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7137499	chr12:21023915-21023916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528729303	chr12:21023929-21023930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181588872	chr12:21023933-21023934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571471587	chr12:21023934-21023935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537169617	chr12:21023984-21023985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557060262	chr12:21024000-21024001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376523286	chr12:21024006-21024007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21020600-21027400	Weak transcription	A549	lung
2	chr12:21021200-21024600	Weak transcription	Liver	Liver
3	chr12:21024600-21026200	Strong transcription	Liver	Liver
4	chr12:21026200-21027800	Weak transcription	Liver	Liver
5	chr12:21027400-21028400	Strong transcription	A549	lung
6	chr12:21027800-21029600	Strong transcription	Liver	Liver
7	chr12:21028400-21035800	Weak transcription	A549	lung
8	chr12:21029600-21032400	Weak transcription	Liver	Liver
9	chr12:21032400-21035400	Strong transcription	Liver	Liver
10	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
12	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
14	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
15	chr12:21035400-21039000	Weak transcription	Liver	Liver
16	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
21	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
22	chr12:21035800-21038200	Enhancers	A549	lung

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