Variant report

Variant	esv3385301
Chromosome Location	chr12:117140386-117140799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117140689..117141224-chr12:117393532..117394138,2	K562	blood:
2	chr12:117140723..117141336-chr12:117393093..117394044,4	MCF-7	breast:
3	chr12:117140735..117141671-chr12:117588590..117589561,3	K562	blood:
4	chr12:117140690..117141624-chr12:117557280..117558280,3	K562	blood:
5	chr12:117140715..117144764-chr12:117146137..117149297,3	MCF-7	breast:
6	chr12:117133986..117137596-chr12:117137852..117142272,5	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNFT2-2	chr12:117140598-117140935	ENSG00000257654

No data

Variant related genes	Relation type
ENSG00000257654	chromatin interactions
VEGFA	miRNA target sites

Extended variants
information (count: 14 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557083637	chr12:117140472-117140473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371995217	chr12:117140494-117140495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150027865	chr12:117140562-117140563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61936663	chr12:117140588-117140589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540018154	chr12:117140590-117140591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10850702	chr12:117140619-117140620	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577530166	chr12:117140635-117140636	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs542116516	chr12:117140666-117140667	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs10850703	chr12:117140689-117140690	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4767437	chr12:117140744-117140745	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11068151	chr12:117140752-117140753	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112032230	chr12:117140778-117140779	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs564223528	chr12:117140779-117140780	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs537845351	chr12:117140799-117140800	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117132000-117141200	Weak transcription	Lung	lung
2	chr12:117132200-117147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:117132400-117147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:117134200-117146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:117135600-117141400	Weak transcription	Right Atrium	heart
6	chr12:117135600-117147000	Weak transcription	Gastric	stomach
7	chr12:117135800-117146400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:117136600-117145600	Weak transcription	Brain Germinal Matrix	brain
9	chr12:117136600-117145600	Weak transcription	Right Ventricle	heart
10	chr12:117136600-117146600	Weak transcription	Ovary	ovary
11	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:117136800-117141200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:117136800-117144800	Weak transcription	Fetal Thymus	thymus
14	chr12:117136800-117146400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:117136800-117146400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:117137000-117141200	Weak transcription	Liver	Liver
17	chr12:117137000-117141200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:117137000-117141200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:117137800-117146600	Weak transcription	Pancreas	Pancrea
20	chr12:117138200-117141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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