Variant report

Variant	esv3486330
Chromosome Location	chr12:41899304-41899798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:41899238-41899378	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:41899757-41899836	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:41899408-41899437	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PDZRN4	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 57 )

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	rs6582337	chr12:41899312-41899313	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146199248	chr12:41899332-41899333	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs137967734	chr12:41899385-41899386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536587468	chr12:41899412-41899413	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188335016	chr12:41899430-41899431	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543334107	chr12:41899432-41899433	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199524163	chr12:41899445-41899446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561613455	chr12:41899465-41899466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528866532	chr12:41899505-41899506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554838362	chr12:41899546-41899547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569968735	chr12:41899551-41899552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547029087	chr12:41899604-41899605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116044981	chr12:41899617-41899618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192181414	chr12:41899650-41899651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551981832	chr12:41899684-41899685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7307387	chr12:41899714-41899715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537611132	chr12:41899728-41899729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368573231	chr12:41899731-41899732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370363428	chr12:41899742-41899743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549709346	chr12:41899755-41899756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559080049	chr12:41899796-41899797	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	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
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	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41869600-41905200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41877400-41903600	Weak transcription	Ovary	ovary
3	chr12:41887600-41901400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:41894000-41900600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:41898000-41900200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:41898600-41901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:41898600-41915400	Weak transcription	Aorta	Aorta
8	chr12:41899000-41906000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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