Variant report

Variant	nsv527807
Chromosome Location	chr12:29597846-29598480
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	ELK4	chr12:29598429-29598583	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
OVCH1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11050234	chr12:29597846-29597847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570730221	chr12:29597895-29597896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535171538	chr12:29597929-29597930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191600372	chr12:29597938-29597939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568136673	chr12:29597997-29597998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182660269	chr12:29598028-29598029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377667755	chr12:29598056-29598057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529345319	chr12:29598090-29598091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575643057	chr12:29598097-29598098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539759857	chr12:29598114-29598115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141085430	chr12:29598134-29598135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544648049	chr12:29598145-29598146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10160999	chr12:29598156-29598157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540383324	chr12:29598166-29598167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559633169	chr12:29598193-29598194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369948564	chr12:29598196-29598197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574874878	chr12:29598246-29598247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373361800	chr12:29598252-29598253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376321397	chr12:29598253-29598254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74678553	chr12:29598258-29598259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530782671	chr12:29598259-29598260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372898794	chr12:29598260-29598261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552476710	chr12:29598261-29598262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564396170	chr12:29598268-29598269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377100698	chr12:29598283-29598284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528717043	chr12:29598284-29598285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7967676	chr12:29598292-29598293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374193920	chr12:29598331-29598332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73278719	chr12:29598341-29598342	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574214099	chr12:29598360-29598361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7133304	chr12:29598373-29598374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs376111615	chr12:29598378-29598379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557752194	chr12:29598407-29598408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187080394	chr12:29598437-29598438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558094506	chr12:29598478-29598479	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11050235	chr12:29598480-29598481	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
6	chr12:29589600-29598200	Weak transcription	HSMM	muscle
7	chr12:29594200-29600600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
9	chr12:29598200-29598400	Enhancers	HSMM	muscle
10	chr12:29598400-29657400	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links