Variant report

Variant	nsv822149
Chromosome Location	chr3:78807515-78809579
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	CUX1	chr3:78808956-78809185	GM12878	blood:	n/a	n/a
2	EBF1	chr3:78808898-78809311	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:78808124-78808199	MCF-7	breast:	n/a	n/a
4	REST	chr3:78808004-78808342	PFSK-1	brain:	n/a	n/a
5	REST	chr3:78808022-78808274	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr3:78808062-78808269	PFSK-1	brain:	n/a	n/a
7	TBP	chr3:78808930-78809057	GM12878	blood:	n/a	n/a
8	ZNF143	chr3:78808096-78808430	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-10	chr3:78808124-78808524	NONHSAT090581

Variant related genes	Relation type
ENSG00000240752	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561146273	chr3:78807521-78807522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115778691	chr3:78807559-78807560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193068581	chr3:78807565-78807566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184158004	chr3:78807568-78807569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570396738	chr3:78807574-78807575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140925154	chr3:78807576-78807577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1865860	chr3:78807603-78807604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9822208	chr3:78807659-78807660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62257475	chr3:78807665-78807666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72439080	chr3:78807676-78807677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397990257	chr3:78807697-78807698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397875301	chr3:78807698-78807699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534882926	chr3:78807729-78807730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188358591	chr3:78807736-78807737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568377194	chr3:78807758-78807759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138800404	chr3:78807817-78807818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556892752	chr3:78807853-78807854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577179934	chr3:78807869-78807870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546220314	chr3:78807874-78807875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553189323	chr3:78807924-78807925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201797732	chr3:78807937-78807938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs33919329	chr3:78807938-78807939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398091595	chr3:78807939-78807940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76165537	chr3:78807941-78807942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34420414	chr3:78807942-78807943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573315937	chr3:78807969-78807970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541212692	chr3:78807992-78807993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570767944	chr3:78807995-78807996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11716325	chr3:78808015-78808016	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529969191	chr3:78808026-78808027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs148955183	chr3:78808082-78808083	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192307922	chr3:78808188-78808189	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs184559367	chr3:78808231-78808232	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs79815098	chr3:78808234-78808235	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs553213615	chr3:78808241-78808242	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565621688	chr3:78808288-78808289	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs371996104	chr3:78808311-78808312	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs143740403	chr3:78808321-78808322	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs574540852	chr3:78808328-78808329	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs34811803	chr3:78808334-78808335	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534205611	chr3:78808343-78808344	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs35812135	chr3:78808356-78808357	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138487633	chr3:78808374-78808375	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs557224089	chr3:78808402-78808403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188578499	chr3:78808406-78808407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs370954845	chr3:78808469-78808470	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375098326	chr3:78808485-78808486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539429506	chr3:78808492-78808493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs151169927	chr3:78808539-78808540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530070954	chr3:78808540-78808541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78787400-78814800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:78798600-78810200	Weak transcription	Fetal Lung	lung
3	chr3:78802200-78810200	Weak transcription	Fetal Stomach	stomach
4	chr3:78803800-78814800	Weak transcription	NHDF-Ad	bronchial
5	chr3:78804400-78814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:78804600-78808000	Weak transcription	Pancreas	Pancrea
7	chr3:78804800-78808200	Weak transcription	HepG2	liver
8	chr3:78806400-78808000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:78806400-78808000	Enhancers	Brain Substantia Nigra	brain
10	chr3:78806600-78808400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:78806800-78807600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:78807000-78811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:78807000-78813600	Weak transcription	Fetal Brain Male	brain
14	chr3:78807200-78808000	Enhancers	Brain Angular Gyrus	brain
15	chr3:78807200-78808200	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:78807200-78811000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:78807200-78814600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:78807200-78814800	Weak transcription	Brain Anterior Caudate	brain
19	chr3:78807600-78815200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:78808000-78808400	Enhancers	Pancreas	Pancrea
21	chr3:78808000-78810200	Weak transcription	Brain Angular Gyrus	brain
22	chr3:78808200-78808400	Enhancers	HepG2	liver
23	chr3:78808400-78808800	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:78808800-78809000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:78809000-78814800	Weak transcription	Brain Hippocampus Middle	brain

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