Variant report

Variant	esv3318617
Chromosome Location	chr19:51406707-51408403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51405117..51408111-chr19:51411398..51414932,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167749	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569873721	chr19:51406716-51406717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs806018	chr19:51406778-51406779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs806017	chr19:51406785-51406786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs193127433	chr19:51406787-51406788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573677307	chr19:51406791-51406792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540591541	chr19:51406792-51406793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs806016	chr19:51406802-51406803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs806015	chr19:51406838-51406839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4801856	chr19:51406882-51406883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4802757	chr19:51406888-51406889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577897966	chr19:51406927-51406928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545343368	chr19:51406934-51406935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563718769	chr19:51406935-51406936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149673317	chr19:51406979-51406980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200554056	chr19:51407098-51407099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185221495	chr19:51407100-51407101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528611116	chr19:51407264-51407265	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547000047	chr19:51407279-51407280	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59557274	chr19:51407282-51407283	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397805400	chr19:51407286-51407287	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56352322	chr19:51407293-51407294	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112607658	chr19:51407301-51407302	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147766636	chr19:51407321-51407322	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111331772	chr19:51407392-51407393	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569855957	chr19:51407418-51407419	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537222634	chr19:51407424-51407425	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189226106	chr19:51407591-51407592	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567008266	chr19:51407602-51407603	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534442928	chr19:51407603-51407604	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181263272	chr19:51407628-51407629	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113009500	chr19:51407672-51407673	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147008665	chr19:51407699-51407700	Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76580209	chr19:51407833-51407834	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79079182	chr19:51407869-51407870	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1701925	chr19:51407925-51407926	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs377087721	chr19:51407964-51407965	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529350710	chr19:51408000-51408001	Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549568283	chr19:51408032-51408033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56692703	chr19:51408046-51408047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51407200-51408000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:51407400-51407800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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