Variant report

Variant	esv1809967
Chromosome Location	chr12:42697895-42699107
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	chr12:42631388..42633488-chr12:42697590..42700253,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	chromatin interactions
ENSG00000015153	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539196411	chr12:42697931-42697932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112509376	chr12:42698010-42698011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11181410	chr12:42698032-42698033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529912958	chr12:42698086-42698087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150947187	chr12:42698095-42698096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140785751	chr12:42698097-42698098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554999607	chr12:42698117-42698118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34639867	chr12:42698224-42698225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574022780	chr12:42698239-42698240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs74640262	chr12:42698248-42698249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs398019273	chr12:42698250-42698251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372215894	chr12:42698301-42698302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570517093	chr12:42698316-42698317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563608055	chr12:42698326-42698327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73283792	chr12:42698354-42698355	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149713402	chr12:42698433-42698434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577781236	chr12:42698487-42698488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531727706	chr12:42698489-42698490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146736415	chr12:42698500-42698501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192729404	chr12:42698540-42698541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11181411	chr12:42698544-42698545	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs548612076	chr12:42698549-42698550	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145608118	chr12:42698583-42698584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183507531	chr12:42698613-42698614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571721446	chr12:42698624-42698625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532646370	chr12:42698629-42698630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547000565	chr12:42698643-42698644	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547639466	chr12:42698679-42698680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571449858	chr12:42698680-42698681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12425945	chr12:42698690-42698691	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs531242576	chr12:42698693-42698694	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551107897	chr12:42698762-42698763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369808400	chr12:42698875-42698876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537266967	chr12:42698876-42698877	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569421016	chr12:42698950-42698951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138128649	chr12:42699017-42699018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188238812	chr12:42699044-42699045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10785338	chr12:42699107-42699108	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42693600-42706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42693800-42705600	Weak transcription	Osteobl	bone
5	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:42694000-42705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42694000-42706800	Weak transcription	A549	lung
8	chr12:42694000-42707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
10	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42695800-42705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42696200-42709000	Weak transcription	K562	blood
13	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:42696800-42707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:42697200-42704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:42697200-42710600	Weak transcription	Ovary	ovary
18	chr12:42697400-42703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:42697400-42718000	Weak transcription	HepG2	liver
20	chr12:42698800-42706800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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