Variant report

Variant	esv3521883
Chromosome Location	chr12:48334719-48335193
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	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77399479	chr12:48334722-48334723	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182032009	chr12:48334746-48334747	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561634732	chr12:48334773-48334774	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527847982	chr12:48334787-48334788	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547690751	chr12:48334803-48334804	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564773720	chr12:48334881-48334882	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533473842	chr12:48334938-48334939	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549755280	chr12:48334939-48334940	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569760999	chr12:48334946-48334947	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74086591	chr12:48334949-48334950	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201090261	chr12:48335010-48335011	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143069487	chr12:48335011-48335012	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549415451	chr12:48335013-48335014	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566055084	chr12:48335049-48335050	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116678119	chr12:48335059-48335060	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386762834	chr12:48335079-48335080	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12228024	chr12:48335081-48335082	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539788430	chr12:48335133-48335134	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143101720	chr12:48335138-48335139	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559990332	chr12:48335164-48335165	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs140123475	chr12:48335177-48335178	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial
4	chr12:48332800-48337400	Weak transcription	HMEC	breast
5	chr12:48332800-48337400	Weak transcription	NHEK	skin
6	chr12:48332800-48340200	Weak transcription	Right Atrium	heart
7	chr12:48333000-48335800	Weak transcription	Right Ventricle	heart
8	chr12:48333000-48339200	Weak transcription	HSMM	muscle
9	chr12:48333400-48335200	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:48333400-48335800	Weak transcription	Spleen	Spleen
11	chr12:48333600-48336200	Weak transcription	Small Intestine	intestine
12	chr12:48333800-48337000	Weak transcription	Hela-S3	cervix
13	chr12:48334000-48336800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:48334200-48335200	Weak transcription	HSMMtube	muscle
15	chr12:48334200-48336600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:48334400-48336400	Weak transcription	Colonic Mucosa	Colon
17	chr12:48334600-48335000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:48334600-48335800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:48334800-48335000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:48334800-48335400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:48335000-48335800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:48335000-48336400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:48335000-48337000	Bivalent Enhancer	Fetal Stomach	stomach

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