Variant report

Variant	esv17803
Chromosome Location	chr10:4910041-4910707
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:4898074..4900922-chr10:4908186..4910154,2	MCF-7	breast:
2	chr10:4910157..4911871-chr10:5044243..5046443,2	K562	blood:
3	chr10:4909252..4911999-chr10:4912912..4915277,2	K562	blood:
4	chr10:4909631..4911744-chr10:4926137..4927768,2	K562	blood:
5	chr10:4908257..4910517-chr10:5476484..5478075,2	K562	blood:
6	chr10:4895547..4898409-chr10:4909911..4911446,2	K562	blood:
7	chr10:4908339..4911131-chr10:4925316..4927637,3	K562	blood:
8	chr10:4891671..4893997-chr10:4908116..4911487,5	K562	blood:
9	chr10:4895156..4896682-chr10:4909578..4911685,2	K562	blood:
10	chr10:4889478..4893997-chr10:4907910..4911141,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151632	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61830303	chr10:4910046-4910047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560606825	chr10:4910050-4910051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184707006	chr10:4910071-4910072	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111275811	chr10:4910088-4910089	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs55909699	chr10:4910150-4910151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539615819	chr10:4910215-4910216	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55963870	chr10:4910219-4910220	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4880692	chr10:4910343-4910344	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534706310	chr10:4910371-4910372	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190366136	chr10:4910372-4910373	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536076850	chr10:4910382-4910383	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373535759	chr10:4910392-4910393	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557259396	chr10:4910455-4910456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4881367	chr10:4910493-4910494	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181456937	chr10:4910494-4910495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564291457	chr10:4910522-4910523	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573300468	chr10:4910536-4910537	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77163231	chr10:4910590-4910591	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561751544	chr10:4910607-4910608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143851312	chr10:4910660-4910661	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185744528	chr10:4910663-4910664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112248744	chr10:4910676-4910677	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4880693	chr10:4910690-4910691	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533657865	chr10:4910695-4910696	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4892200-4917800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4893000-4925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:4899800-4913000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:4903400-4924800	Weak transcription	A549	lung
5	chr10:4908600-4910600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:4908800-4944200	Weak transcription	Adipose Nuclei	Adipose
7	chr10:4909000-4910600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:4909200-4912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:4909400-4910600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:4909400-4910800	Flanking Active TSS	K562	blood
11	chr10:4909600-4910400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:4909600-4910400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:4909600-4910400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:4909600-4911000	Enhancers	Fetal Heart	heart
15	chr10:4909800-4910200	Flanking Active TSS	HUVEC	blood vessel
16	chr10:4909800-4910400	Enhancers	Left Ventricle	heart
17	chr10:4909800-4910600	Enhancers	Aorta	Aorta
18	chr10:4910000-4910200	Flanking Active TSS	HepG2	liver
19	chr10:4910000-4914600	Weak transcription	Liver	Liver
20	chr10:4910200-4910400	Enhancers	HepG2	liver
21	chr10:4910200-4910800	Enhancers	HUVEC	blood vessel
22	chr10:4910200-4920400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:4910400-4910600	Flanking Active TSS	HepG2	liver
24	chr10:4910400-4910800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:4910400-4911000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:4910400-4917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:4910400-4936400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links