Variant report

Variant	nsv983484
Chromosome Location	chr12:45007736-45010626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552942684	chr12:45007747-45007748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577630369	chr12:45007751-45007752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187920731	chr12:45007774-45007775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561066639	chr12:45007786-45007787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576262114	chr12:45007853-45007854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528386291	chr12:45008020-45008021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543700125	chr12:45008049-45008050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555835101	chr12:45008054-45008055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574280352	chr12:45008068-45008069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371185096	chr12:45008071-45008072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541029690	chr12:45008072-45008073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559712614	chr12:45008081-45008082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533437927	chr12:45008119-45008120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192207955	chr12:45008175-45008176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79598734	chr12:45008180-45008181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76871693	chr12:45008182-45008183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374774800	chr12:45008226-45008227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142581314	chr12:45008254-45008255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530771422	chr12:45008258-45008259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549161958	chr12:45008259-45008260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4768563	chr12:45008264-45008265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185691849	chr12:45008306-45008307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546250377	chr12:45008317-45008318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150951215	chr12:45008322-45008323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76243704	chr12:45008370-45008371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190215636	chr12:45008437-45008438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540085515	chr12:45008445-45008446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17571971	chr12:45008480-45008481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201059648	chr12:45008513-45008514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537202526	chr12:45008519-45008520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11182560	chr12:45008546-45008547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181725563	chr12:45008574-45008575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17094886	chr12:45008631-45008632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553072733	chr12:45008686-45008687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1869162	chr12:45008720-45008721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545511258	chr12:45008726-45008727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563723536	chr12:45008775-45008776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11182561	chr12:45008840-45008841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542421227	chr12:45008844-45008845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184521357	chr12:45008860-45008861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188785415	chr12:45008951-45008952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546907725	chr12:45008960-45008961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150137251	chr12:45009002-45009003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181207302	chr12:45009020-45009021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577862947	chr12:45009034-45009035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568571977	chr12:45009102-45009103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12578273	chr12:45009103-45009104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536362067	chr12:45009104-45009105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555656269	chr12:45009150-45009151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567879348	chr12:45009205-45009206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:44998800-45018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:45001600-45009800	Weak transcription	Brain Angular Gyrus	brain
5	chr12:45002600-45009600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45003200-45014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45004600-45012600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
9	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:45005000-45023200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:45005000-45031200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:45005000-45044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45005400-45010400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:45005600-45011600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:45009600-45009800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:45009800-45010000	Enhancers	Brain Angular Gyrus	brain
18	chr12:45009800-45010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:45010400-45010600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:45010400-45011000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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