Variant report

Variant	nsv4930
Chromosome Location	chr5:98318768-98350644
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
2	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
3	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
4	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
5	chr5:98341705..98344564-chr5:98346126..98348724,2	K562	blood:
6	chr5:98263523..98265530-chr5:98319881..98323105,3	K562	blood:
7	chr5:98264191..98266799-chr5:98330769..98334496,3	MCF-7	breast:
8	chr5:98336536..98338225-chr5:98341064..98343650,2	K562	blood:
9	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
10	chr5:98320467..98322089-chr5:98322877..98325395,2	MCF-7	breast:
11	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:
12	chr5:98320467..98322089-chr5:98322877..98325395,2	MCF-7	breast:
13	chr5:98263100..98265682-chr5:98335904..98338137,3	K562	blood:
14	chr5:98286475..98288503-chr5:98329447..98332320,2	MCF-7	breast:
15	chr5:98261777..98266971-chr5:98317922..98324645,8	K562	blood:
16	chr5:98325863..98328194-chr5:98369753..98372423,2	MCF-7	breast:
17	chr5:98263262..98265632-chr5:98320644..98322475,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000153922	chromatin interactions
ENSG00000248489	chromatin interactions

Extended variants
information (count: 1232 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528124305	chr5:98318837-98318838	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546291379	chr5:98318889-98318890	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs325193	chr5:98318896-98318897	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558399511	chr5:98318898-98318899	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs578191026	chr5:98318903-98318904	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367919895	chr5:98318924-98318925	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538967749	chr5:98318927-98318928	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557491251	chr5:98318988-98318989	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569151286	chr5:98319007-98319008	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138826802	chr5:98319018-98319019	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368030910	chr5:98319020-98319021	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536346566	chr5:98319021-98319022	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554672334	chr5:98319054-98319055	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs115437278	chr5:98319062-98319063	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1007453	chr5:98319067-98319068	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188196555	chr5:98319157-98319158	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377424553	chr5:98319207-98319208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577826519	chr5:98319272-98319273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs199657469	chr5:98319327-98319328	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192956182	chr5:98319336-98319337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184617693	chr5:98319351-98319352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570992299	chr5:98319376-98319377	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575538545	chr5:98319488-98319489	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34645802	chr5:98319553-98319554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542726719	chr5:98319556-98319557	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187400736	chr5:98319570-98319571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536054818	chr5:98319572-98319573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371831644	chr5:98319631-98319632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528215861	chr5:98319654-98319655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546530710	chr5:98319699-98319700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546351540	chr5:98319717-98319718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs78554778	chr5:98319747-98319748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532833192	chr5:98319783-98319784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114565142	chr5:98319794-98319795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551039074	chr5:98319854-98319855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142705564	chr5:98319924-98319925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536483868	chr5:98319925-98319926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548390818	chr5:98320025-98320026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs161731	chr5:98320043-98320044	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs534042476	chr5:98320061-98320062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558900636	chr5:98320131-98320132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192540639	chr5:98320137-98320138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368874819	chr5:98320141-98320142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12653387	chr5:98320191-98320192	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557324504	chr5:98320209-98320210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575622603	chr5:98320211-98320212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373290408	chr5:98320223-98320224	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375768746	chr5:98320225-98320226	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369573666	chr5:98320228-98320229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113187737	chr5:98320238-98320239	Weak transcription	Chromatin interactive region	2 gene(s)	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98318400-98319000	Enhancers	K562	blood
2	chr5:98318800-98319200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:98319000-98321400	Weak transcription	K562	blood
4	chr5:98321400-98322800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:98321400-98322800	Enhancers	K562	blood
6	chr5:98321400-98322800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:98322000-98322600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:98322400-98322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:98322600-98324400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:98322800-98324800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:98322800-98324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:98322800-98324800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:98322800-98329200	Weak transcription	K562	blood
14	chr5:98324400-98326200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:98324800-98325200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:98324800-98326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:98324800-98326000	Enhancers	Dnd41	blood
20	chr5:98324800-98326200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:98325000-98326000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:98325200-98325400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr5:98325400-98325600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:98325400-98326200	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:98325600-98326000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:98325800-98326000	Enhancers	Thymus	Thymus
27	chr5:98326000-98326600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:98326000-98328000	Weak transcription	Thymus	Thymus
29	chr5:98326200-98331600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:98328000-98330600	Enhancers	Thymus	Thymus
31	chr5:98328600-98330800	Enhancers	Fetal Thymus	thymus
32	chr5:98329000-98331800	Enhancers	Stomach Mucosa	stomach
33	chr5:98329200-98329800	Enhancers	K562	blood
34	chr5:98329200-98330600	Enhancers	Gastric	stomach
35	chr5:98329400-98329800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:98329400-98329800	Enhancers	Placenta	Placenta
37	chr5:98329400-98330000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:98329400-98330800	Enhancers	Fetal Intestine Large	intestine
39	chr5:98329600-98329800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:98329800-98330000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:98329800-98332600	Weak transcription	Placenta	Placenta
42	chr5:98330200-98330800	Enhancers	HepG2	liver
43	chr5:98330400-98330600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:98330600-98330800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:98330600-98330800	Enhancers	Small Intestine	intestine
46	chr5:98330800-98333000	Weak transcription	HepG2	liver
47	chr5:98331600-98331800	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:98331800-98336800	Weak transcription	Stomach Mucosa	stomach
49	chr5:98332200-98333200	Enhancers	NHDF-Ad	bronchial
50	chr5:98332200-98334200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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