Variant report

Variant	esv1837772
Chromosome Location	chr5:98312447-98358852
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:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
2	chr5:98354255..98355887-chr5:98357343..98359494,2	K562	blood:
3	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
4	chr5:98265288..98267597-chr5:98314726..98317352,2	K562	blood:
5	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
6	chr5:98356545..98359049-chr5:98366364..98368367,2	K562	blood:
7	chr5:98263100..98265682-chr5:98335904..98338137,3	K562	blood:
8	chr5:98354255..98355887-chr5:98357343..98359494,2	K562	blood:
9	chr5:98292901..98295067-chr5:98352005..98354647,2	K562	blood:
10	chr5:98320467..98322089-chr5:98322877..98325395,2	MCF-7	breast:
11	chr5:98263523..98265530-chr5:98319881..98323105,3	K562	blood:
12	chr5:98355578..98358107-chr5:98362158..98365732,4	K562	blood:
13	chr5:98325863..98328194-chr5:98369753..98372423,2	MCF-7	breast:
14	chr5:98264797..98266835-chr5:98354593..98357011,2	K562	blood:
15	chr5:98320467..98322089-chr5:98322877..98325395,2	MCF-7	breast:
16	chr5:98263641..98265277-chr5:98310726..98313304,2	MCF-7	breast:
17	chr5:98263262..98265632-chr5:98320644..98322475,2	MCF-7	breast:
18	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
19	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
20	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
21	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
22	chr5:98263237..98265287-chr5:98351093..98355344,3	K562	blood:
23	chr5:98263973..98268060-chr5:98355511..98358159,6	K562	blood:
24	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
25	chr5:98262156..98264317-chr5:98355438..98358771,4	K562	blood:
26	chr5:98250951..98253126-chr5:98356611..98358893,2	K562	blood:
27	chr5:98261777..98266971-chr5:98317922..98324645,8	K562	blood:
28	chr5:98264191..98266799-chr5:98330769..98334496,3	MCF-7	breast:
29	chr5:98286475..98288503-chr5:98329447..98332320,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98330511-98330717	ENSG00000248489.1
2	lnc-RGMB-1	chr5:98312475-98312604	ENSG00000248489.1

No data

Variant related genes	Relation type
ENSG00000153922	chromatin interactions
ENSG00000248489	chromatin interactions

Extended variants
information (count: 1617 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs40075	chr5:98312447-98312448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565008724	chr5:98312483-98312484	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs148945287	chr5:98312523-98312524	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs550523737	chr5:98312527-98312528	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs188441010	chr5:98312534-98312535	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs11948154	chr5:98312537-98312538	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs530378284	chr5:98312551-98312552	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs559036013	chr5:98312640-98312641	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180804120	chr5:98312690-98312691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566701251	chr5:98312699-98312700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534157209	chr5:98312700-98312701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116310016	chr5:98312762-98312763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35148981	chr5:98312789-98312790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528245542	chr5:98312799-98312800	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185806226	chr5:98312841-98312842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537954671	chr5:98312850-98312851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142818262	chr5:98312872-98312873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34489	chr5:98312884-98312885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372126059	chr5:98312915-98312916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190322351	chr5:98312931-98312932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183126183	chr5:98312950-98312951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs162148	chr5:98313054-98313055	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540396478	chr5:98313069-98313070	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577177429	chr5:98313086-98313087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111593026	chr5:98313101-98313102	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546100704	chr5:98313161-98313162	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565099443	chr5:98313181-98313182	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576826187	chr5:98313191-98313192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543982280	chr5:98313193-98313194	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562495600	chr5:98313258-98313259	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529684941	chr5:98313266-98313267	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186780931	chr5:98313309-98313310	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560378065	chr5:98313310-98313311	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527999770	chr5:98313320-98313321	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78372214	chr5:98313342-98313343	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570964311	chr5:98313363-98313364	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537345274	chr5:98313418-98313419	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191627410	chr5:98313420-98313421	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568422990	chr5:98313438-98313439	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34488	chr5:98313477-98313478	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs550379834	chr5:98313531-98313532	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573148889	chr5:98313609-98313610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201483125	chr5:98313698-98313699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542040565	chr5:98313708-98313709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534083900	chr5:98313721-98313722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562252575	chr5:98313744-98313745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184093260	chr5:98313770-98313771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577005853	chr5:98313773-98313774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113016303	chr5:98313787-98313788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570803895	chr5:98313838-98313839	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98310600-98312600	Enhancers	Primary B cells from peripheral blood	blood
2	chr5:98310800-98313000	Enhancers	Stomach Mucosa	stomach
3	chr5:98311200-98312600	Enhancers	Primary B cells from cord blood	blood
4	chr5:98311200-98312600	Enhancers	Primary T cells from cord blood	blood
5	chr5:98311200-98312600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:98311200-98312600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:98311200-98312800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr5:98311200-98314000	Enhancers	GM12878-XiMat	blood
9	chr5:98312200-98313200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:98312400-98313600	Weak transcription	Thymus	Thymus
11	chr5:98313000-98313600	Flanking Active TSS	Stomach Mucosa	stomach
12	chr5:98313000-98314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:98313200-98313600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:98313200-98313800	Enhancers	Liver	Liver
15	chr5:98313200-98313800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:98313400-98313800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:98313600-98313800	Enhancers	Thymus	Thymus
18	chr5:98313600-98314200	Enhancers	Stomach Mucosa	stomach
19	chr5:98318400-98319000	Enhancers	K562	blood
20	chr5:98318800-98319200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:98319000-98321400	Weak transcription	K562	blood
22	chr5:98321400-98322800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:98321400-98322800	Enhancers	K562	blood
24	chr5:98321400-98322800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:98322000-98322600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:98322400-98322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:98322600-98324400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:98322800-98324800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:98322800-98324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:98322800-98324800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:98322800-98329200	Weak transcription	K562	blood
32	chr5:98324400-98326200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:98324800-98325200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:98324800-98326000	Enhancers	Dnd41	blood
38	chr5:98324800-98326200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:98325000-98326000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:98325200-98325400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr5:98325400-98325600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:98325400-98326200	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:98325600-98326000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:98325800-98326000	Enhancers	Thymus	Thymus
45	chr5:98326000-98326600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:98326000-98328000	Weak transcription	Thymus	Thymus
47	chr5:98326200-98331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:98328000-98330600	Enhancers	Thymus	Thymus
49	chr5:98328600-98330800	Enhancers	Fetal Thymus	thymus
50	chr5:98329000-98331800	Enhancers	Stomach Mucosa	stomach

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