Variant report

Variant	nsv435639
Chromosome Location	chr12:47199153-47203015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47197852..47200228-chr12:47202227..47204199,2	K562	blood:
2	chr12:47197852..47200228-chr12:47202227..47204199,2	K562	blood:
3	chr12:47197475..47200210-chr12:47218615..47220566,2	K562	blood:
4	chr12:47198728..47200370-chr12:47200788..47203727,2	K562	blood:
5	chr12:47198728..47200370-chr12:47200788..47203727,2	K562	blood:

Variant related genes	Relation type
ENSG00000139209	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114921259	chr12:47199166-47199167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529925400	chr12:47199209-47199210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189606034	chr12:47199275-47199276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140467242	chr12:47199282-47199283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538847674	chr12:47199283-47199284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559049593	chr12:47199297-47199298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569372891	chr12:47199328-47199329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538378887	chr12:47199329-47199330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs554653257	chr12:47199345-47199346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs117193269	chr12:47199348-47199349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113220513	chr12:47199372-47199373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181212718	chr12:47199395-47199396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74239143	chr12:47199399-47199400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560284973	chr12:47199473-47199474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528769410	chr12:47199478-47199479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576982123	chr12:47199531-47199532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79020793	chr12:47199549-47199550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144501139	chr12:47199608-47199609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75017413	chr12:47199651-47199652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374870067	chr12:47199673-47199674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547234232	chr12:47199678-47199679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544322442	chr12:47199682-47199683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560695080	chr12:47199746-47199747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367927874	chr12:47199784-47199785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146643028	chr12:47199806-47199807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141340642	chr12:47199841-47199842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372152608	chr12:47199847-47199848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560466899	chr12:47199879-47199880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532498618	chr12:47199918-47199919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs58512975	chr12:47199948-47199949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569110710	chr12:47199968-47199969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113057625	chr12:47199973-47199974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186663559	chr12:47200091-47200092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145089407	chr12:47200102-47200103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138975003	chr12:47200104-47200105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373065278	chr12:47200196-47200197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553996117	chr12:47200202-47200203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372907397	chr12:47200221-47200222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577116814	chr12:47200222-47200223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189665075	chr12:47200247-47200248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111303302	chr12:47200369-47200370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377744106	chr12:47200380-47200381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575318489	chr12:47200472-47200473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576599337	chr12:47200478-47200479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149047278	chr12:47200492-47200493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143085507	chr12:47200610-47200611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78979556	chr12:47200617-47200618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574306295	chr12:47200622-47200623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2532606	chr12:47200662-47200663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201125020	chr12:47200688-47200689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47187800-47209400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:47197600-47203000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:47197600-47205000	Weak transcription	Psoas Muscle	Psoas
4	chr12:47198600-47203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:47198800-47199200	Weak transcription	Liver	Liver
6	chr12:47199200-47201400	Enhancers	Liver	Liver
7	chr12:47201400-47202200	Flanking Active TSS	Liver	Liver
8	chr12:47201800-47203800	Enhancers	HepG2	liver
9	chr12:47202200-47202600	Enhancers	Liver	Liver
10	chr12:47202600-47203200	Flanking Active TSS	Liver	Liver
11	chr12:47202800-47203600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:47203000-47203400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:47203000-47203400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:47203000-47203400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:47203000-47203600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:47203000-47203600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:47203000-47204000	Enhancers	Pancreatic Islets	Pancreatic Islet

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