Variant report

Variant	esv3407693
Chromosome Location	chr12:75761816-75762397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553751037	chr12:75761851-75761852	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4882689	chr12:75761968-75761969	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs190847154	chr12:75762053-75762054	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141179717	chr12:75762062-75762063	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369525988	chr12:75762130-75762131	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534338605	chr12:75762179-75762180	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554296053	chr12:75762200-75762201	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544099443	chr12:75762249-75762250	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs180894432	chr12:75762254-75762255	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4882690	chr12:75762285-75762286	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369300906	chr12:75762288-75762289	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540486628	chr12:75762290-75762291	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372535531	chr12:75762307-75762308	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369480259	chr12:75762356-75762357	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532178069	chr12:75762385-75762386	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530360768	chr12:75762392-75762393	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75749600-75782800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:75749800-75771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:75754000-75784200	Weak transcription	Right Ventricle	heart
4	chr12:75757200-75783400	Weak transcription	Ovary	ovary
5	chr12:75758200-75782600	Weak transcription	Aorta	Aorta
6	chr12:75760400-75763400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:75760800-75762600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:75760800-75763200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:75760800-75766400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:75761000-75762200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:75761000-75763800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:75761600-75763200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:75761800-75762000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:75761800-75763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:75762000-75762400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:75762200-75763200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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