Variant report

Variant	esv3400311
Chromosome Location	chr12:46103187-46103616
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	chr12:46103374..46105811-chr12:46121014..46123339,2	K562	blood:
2	chr12:46102452..46106078-chr12:46112003..46116824,4	K562	blood:

Variant related genes	Relation type
ENSG00000273015	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564977195	chr12:46103232-46103233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182020512	chr12:46103272-46103273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372204354	chr12:46103292-46103293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374244645	chr12:46103303-46103304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111664447	chr12:46103321-46103322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550572707	chr12:46103323-46103324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143387907	chr12:46103352-46103353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185163584	chr12:46103364-46103365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549263101	chr12:46103382-46103383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570931056	chr12:46103425-46103426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567562611	chr12:46103462-46103463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534873931	chr12:46103508-46103509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546808476	chr12:46103515-46103516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11183179	chr12:46103566-46103567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10785588	chr12:46103606-46103607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557337277	chr12:46103607-46103608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11183180	chr12:46103615-46103616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46095800-46106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:46098200-46106000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:46099000-46103400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:46099600-46105600	Weak transcription	Left Ventricle	heart
7	chr12:46099600-46113000	Weak transcription	Psoas Muscle	Psoas
8	chr12:46099600-46115600	Weak transcription	Ovary	ovary
9	chr12:46100600-46104000	Enhancers	Liver	Liver
10	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:46101000-46112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:46101200-46108400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:46101400-46115600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:46102400-46106600	Weak transcription	HSMM	muscle
15	chr12:46102600-46106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:46102800-46103400	Enhancers	Small Intestine	intestine
17	chr12:46103000-46104600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:46103400-46106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:46103400-46115200	Weak transcription	Small Intestine	intestine

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