Variant report

Variant	nsv972980
Chromosome Location	chr12:39521585-39529863
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	chr12:39523769..39526109-chr12:39527144..39529582,2	K562	blood:
2	chr12:39523769..39526109-chr12:39527144..39529582,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180854296	chr12:39521593-39521594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540307361	chr12:39521621-39521622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560234414	chr12:39521643-39521644	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554428968	chr12:39521651-39521652	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528869645	chr12:39521685-39521686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367875353	chr12:39521697-39521698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548657938	chr12:39521698-39521699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568760742	chr12:39521700-39521701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531079518	chr12:39521712-39521713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140282992	chr12:39521760-39521761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576192103	chr12:39521766-39521767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376070385	chr12:39521830-39521831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556478329	chr12:39521849-39521850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185926340	chr12:39521893-39521894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539593351	chr12:39521900-39521901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529433731	chr12:39521922-39521923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10161386	chr12:39521925-39521926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368868450	chr12:39521940-39521941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144167953	chr12:39521960-39521961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575509546	chr12:39522037-39522038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543089107	chr12:39522073-39522074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544501604	chr12:39522085-39522086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147751275	chr12:39522116-39522117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577906873	chr12:39522145-39522146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140975015	chr12:39522161-39522162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560294777	chr12:39522178-39522179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191350411	chr12:39522183-39522184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368422930	chr12:39522185-39522186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11170818	chr12:39522323-39522324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183258102	chr12:39522346-39522347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540618266	chr12:39522448-39522449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550861355	chr12:39522461-39522462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564380512	chr12:39522469-39522470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533359245	chr12:39522470-39522471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11837746	chr12:39522518-39522519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117259349	chr12:39522596-39522597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535542851	chr12:39522614-39522615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549391058	chr12:39522624-39522625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188485362	chr12:39522685-39522686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538187338	chr12:39522716-39522717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151299477	chr12:39522764-39522765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577966737	chr12:39522786-39522787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77447585	chr12:39522791-39522792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140512534	chr12:39522800-39522801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573716980	chr12:39522823-39522824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542337786	chr12:39522828-39522829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555943315	chr12:39522837-39522838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562551676	chr12:39522840-39522841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559339387	chr12:39522846-39522847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10783624	chr12:39522907-39522908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21509527	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
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39517000-39523000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:39517400-39523000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:39517800-39523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:39518400-39523000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:39518800-39523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:39519800-39523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:39520600-39521600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:39520800-39521600	Enhancers	NHEK	skin
9	chr12:39520800-39522000	Enhancers	HUVEC	blood vessel
10	chr12:39521000-39521600	Enhancers	Hela-S3	cervix
11	chr12:39521000-39521800	Enhancers	HMEC	breast
12	chr12:39521200-39521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:39521200-39521800	Flanking Active TSS	A549	lung
14	chr12:39521400-39521600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:39521400-39522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:39521600-39522000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:39521800-39522000	Enhancers	A549	lung
18	chr12:39523000-39523200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:39523000-39523600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:39523000-39523600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:39523000-39523800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:39523200-39523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:39523200-39523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:39523400-39523800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:39523800-39524000	Enhancers	HUES64 Cell Line	embryonic stem cell

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