Variant report

Variant	nsv557722
Chromosome Location	chr12:21296344-21317922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 829 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2417954	chr12:21296344-21296345	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374470872	chr12:21296375-21296376	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113938801	chr12:21296405-21296406	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543932937	chr12:21296424-21296425	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563752146	chr12:21296439-21296440	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187770312	chr12:21296452-21296453	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2417955	chr12:21296475-21296476	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543057857	chr12:21296547-21296548	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551029443	chr12:21296552-21296553	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73244858	chr12:21296584-21296585	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150209172	chr12:21296624-21296625	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557087977	chr12:21296639-21296640	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10743408	chr12:21296707-21296708	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536743359	chr12:21296787-21296788	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111239511	chr12:21296794-21296795	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12582717	chr12:21296806-21296807	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377264050	chr12:21296837-21296838	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545286410	chr12:21296839-21296840	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559174479	chr12:21296870-21296871	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575848788	chr12:21296877-21296878	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544152525	chr12:21296910-21296911	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192207397	chr12:21296925-21296926	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534260704	chr12:21296946-21296947	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201377439	chr12:21296959-21296960	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556803327	chr12:21296975-21296976	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184370666	chr12:21297150-21297151	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138825336	chr12:21297156-21297157	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113337893	chr12:21297165-21297166	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559849373	chr12:21297262-21297263	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532148292	chr12:21297292-21297293	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577569730	chr12:21297296-21297297	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148971752	chr12:21297378-21297379	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2169967	chr12:21297464-21297465	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531499031	chr12:21297508-21297509	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367614758	chr12:21297540-21297541	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2127301	chr12:21297550-21297551	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs567644035	chr12:21297567-21297568	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192909959	chr12:21297610-21297611	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553467188	chr12:21297634-21297635	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566991238	chr12:21297684-21297685	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111703662	chr12:21297686-21297687	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111533515	chr12:21297719-21297720	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539173777	chr12:21297770-21297771	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184521602	chr12:21297781-21297782	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79429209	chr12:21297798-21297799	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377517173	chr12:21297811-21297812	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538153879	chr12:21297819-21297820	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569121482	chr12:21297840-21297841	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370756692	chr12:21297844-21297845	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145776788	chr12:21297853-21297854	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21293800-21296600	Genic enhancers	Liver	Liver
2	chr12:21296600-21297800	Strong transcription	Liver	Liver
3	chr12:21297800-21298200	Genic enhancers	Liver	Liver
4	chr12:21298200-21298400	Weak transcription	Liver	Liver
5	chr12:21298400-21298600	Enhancers	Liver	Liver
6	chr12:21298600-21299000	Weak transcription	Liver	Liver
7	chr12:21299000-21299600	Enhancers	Liver	Liver
8	chr12:21299600-21302400	Weak transcription	Liver	Liver
9	chr12:21302400-21303000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:21302400-21303400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:21302400-21306600	Enhancers	Liver	Liver
12	chr12:21302600-21303400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:21302600-21303400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:21302600-21303400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:21306600-21307000	Weak transcription	Liver	Liver
16	chr12:21307000-21308400	Enhancers	Liver	Liver
17	chr12:21308400-21309000	Flanking Active TSS	Liver	Liver
18	chr12:21308600-21309000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:21308600-21309000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:21309000-21310400	Enhancers	Liver	Liver
21	chr12:21310400-21316600	Weak transcription	Liver	Liver
22	chr12:21316600-21317000	Enhancers	Liver	Liver
23	chr12:21317000-21321000	Weak transcription	Liver	Liver

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