Variant report

Variant	esv3445386
Chromosome Location	chr12:39994168-39994764
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	chr12:39989700..39991592-chr12:39994179..39996342,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552470419	chr12:39994228-39994229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570884134	chr12:39994243-39994244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550755561	chr12:39994293-39994294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556625121	chr12:39994300-39994301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575282304	chr12:39994305-39994306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536441048	chr12:39994350-39994351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375574755	chr12:39994362-39994363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199994997	chr12:39994368-39994369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149853857	chr12:39994495-39994496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376128533	chr12:39994526-39994527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145106475	chr12:39994585-39994586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201667205	chr12:39994592-39994593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187516840	chr12:39994608-39994609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192136873	chr12:39994638-39994639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577287879	chr12:39994650-39994651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539755248	chr12:39994655-39994656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10877173	chr12:39994674-39994675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562967708	chr12:39994676-39994677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566640883	chr12:39994725-39994726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
3	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:39973000-39996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:39980200-40006000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:39980200-40009200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:39981600-39999400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:39987800-40002000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:39988000-39999600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:39991800-39997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:39992200-40000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:39992800-39995000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:39992800-39996400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:39993000-39994600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:39993000-39997800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:39993200-39994800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:39993400-39994200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:39993600-39997400	Weak transcription	GM12878-XiMat	blood
19	chr12:39993800-39994200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:39993800-39996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:39993800-40003400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:39993800-40005600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:39994200-39996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:39994200-40002800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:39994600-39996000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links