Variant report

Variant	nsv522940
Chromosome Location	chr12:39946354-39998144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:
2	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
3	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:
4	chr12:39975317..39977272-chr12:39980536..39983177,3	K562	blood:

Extended variants
information (count: 2017 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7968837	chr12:39946354-39946355	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189690238	chr12:39946391-39946392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564533163	chr12:39946446-39946447	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116578460	chr12:39946473-39946474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147452712	chr12:39946474-39946475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562285820	chr12:39946510-39946511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529548212	chr12:39946526-39946527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548100191	chr12:39946530-39946531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139899219	chr12:39946581-39946582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12303375	chr12:39946635-39946636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12227286	chr12:39946653-39946654	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550798303	chr12:39946670-39946671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570163476	chr12:39946684-39946685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555486570	chr12:39946695-39946696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182665493	chr12:39946696-39946697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147343508	chr12:39946710-39946711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535363658	chr12:39946714-39946715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377499168	chr12:39946724-39946725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554076399	chr12:39946752-39946753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151073954	chr12:39946776-39946777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187059469	chr12:39946805-39946806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141056286	chr12:39946807-39946808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543601836	chr12:39946812-39946813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576573979	chr12:39946830-39946831	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565174677	chr12:39946844-39946845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543969407	chr12:39946849-39946850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562124291	chr12:39946873-39946874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529540604	chr12:39946875-39946876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144906333	chr12:39946922-39946923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559953202	chr12:39946926-39946927	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533458969	chr12:39947027-39947028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540832489	chr12:39947056-39947057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74088741	chr12:39947140-39947141	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570127861	chr12:39947169-39947170	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531290283	chr12:39947239-39947240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145851369	chr12:39947255-39947256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4294600	chr12:39947308-39947309	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs145839091	chr12:39947314-39947315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11172566	chr12:39947325-39947326	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146416625	chr12:39947359-39947360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565937138	chr12:39947365-39947366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112574840	chr12:39947405-39947406	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558170188	chr12:39947511-39947512	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147230972	chr12:39947588-39947589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576537680	chr12:39947612-39947613	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112084349	chr12:39947613-39947614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548648154	chr12:39947650-39947651	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200418484	chr12:39947666-39947667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185380154	chr12:39947673-39947674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144667854	chr12:39947679-39947680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39935400-39946400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:39938800-39951000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:39939800-39950800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:39941400-39949600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:39942600-39951600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:39943600-39951400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:39944000-39949600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:39945000-39949800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:39945000-39951600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:39945200-39946400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:39945800-39949200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:39945800-39950800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:39946000-39947600	Weak transcription	GM12878-XiMat	blood
14	chr12:39946000-39949200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:39946000-39951400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:39946200-39952200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:39946400-39949000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:39946400-39952400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:39947200-39951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:39947600-39948000	Strong transcription	GM12878-XiMat	blood
21	chr12:39948000-39951400	Weak transcription	GM12878-XiMat	blood
22	chr12:39948400-39951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:39949000-39950000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:39949200-39949400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr12:39949200-39949600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:39949400-39949800	Enhancers	Esophagus	oesophagus
28	chr12:39949400-39950000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:39949600-39949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:39949600-39950400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr12:39949600-39951600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:39949600-39953000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:39949800-39950200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:39949800-39951600	Weak transcription	Esophagus	oesophagus
35	chr12:39950000-39950200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:39950000-39951400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:39950200-39951800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:39950200-39953000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr12:39950400-39951200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:39950600-39952800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:39950800-39951200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:39950800-39952400	Strong transcription	Primary T cells from cord blood	blood
43	chr12:39951000-39955400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:39951200-39952400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr12:39951200-39953000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:39951200-39953000	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr12:39951400-39952000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:39951400-39952400	ZNF genes & repeats	Fetal Brain Female	brain
49	chr12:39951400-39952600	ZNF genes & repeats	Spleen	Spleen
50	chr12:39951400-39953000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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