Variant report

Variant	nsv968218
Chromosome Location	chr5:89807821-89809038
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:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89797561..89800163-chr5:89806524..89808529,2	K562	blood:
2	chr5:89703969..89706957-chr5:89807176..89809846,2	K562	blood:
3	chr5:89768668..89770886-chr5:89808877..89811460,3	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	POLR3G	hsa-miR-26b-5p	chr5:89808597-89808615
2	POLR3G	hsa-miR-26b-5p	chr5:89808262-89808269
3	POLR3G	hsa-miR-26b-5p	chr5:89808371-89808391
4	POLR3G	hsa-miR-26b-5p	chr5:89808249-89808269
5	POLR3G	hsa-miR-26b-5p	chr5:89808385-89808391

Variant related genes	Relation type
ENSG00000176055	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000255647	chromatin interactions
ENSG00000113356	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 83 )

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	rs567914434	chr5:89807831-89807832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115689118	chr5:89807839-89807840	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375278501	chr5:89807841-89807842	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201346331	chr5:89807856-89807857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550072921	chr5:89807859-89807860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568968429	chr5:89807896-89807897	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369052283	chr5:89807918-89807919	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183656818	chr5:89807952-89807953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577227415	chr5:89807964-89807965	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371458647	chr5:89807975-89807976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533498045	chr5:89807993-89807994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553671587	chr5:89808031-89808032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573565097	chr5:89808113-89808114	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531912103	chr5:89808118-89808119	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs188487599	chr5:89808168-89808169	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548459688	chr5:89808186-89808187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562518665	chr5:89808304-89808305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576525825	chr5:89808323-89808324	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191360569	chr5:89808332-89808333	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562163116	chr5:89808335-89808336	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565340564	chr5:89808398-89808399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527860454	chr5:89808483-89808484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527690727	chr5:89808511-89808512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34906852	chr5:89808519-89808520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs7724507	chr5:89808531-89808532	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561583428	chr5:89808561-89808562	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182732640	chr5:89808570-89808571	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550380227	chr5:89808762-89808763	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570149508	chr5:89808781-89808782	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs377681852	chr5:89808783-89808784	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186681005	chr5:89808815-89808816	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201028228	chr5:89808878-89808879	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs551189867	chr5:89808882-89808883	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs570979958	chr5:89808932-89808933	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs191445375	chr5:89808977-89808978	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs72781088	chr5:89808979-89808980	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573626089	chr5:89809013-89809014	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs536151581	chr5:89809027-89809028	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs556362084	chr5:89809035-89809036	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89771600-89814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:89773800-89816000	Weak transcription	HepG2	liver
3	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:89774000-89814600	Weak transcription	Dnd41	blood
5	chr5:89774400-89814600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:89780400-89810800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:89783800-89813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:89784800-89814600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:89785400-89814600	Weak transcription	NHLF	lung
11	chr5:89790200-89809600	Weak transcription	GM12878-XiMat	blood
12	chr5:89791400-89814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:89791600-89813800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:89791600-89814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:89792200-89810400	Weak transcription	Left Ventricle	heart
16	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
17	chr5:89797600-89814600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:89797600-89824200	Weak transcription	Brain Angular Gyrus	brain
19	chr5:89798000-89814600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:89799600-89817200	Weak transcription	NHDF-Ad	bronchial
21	chr5:89799800-89814600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:89800000-89814400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:89800000-89814600	Weak transcription	NHEK	skin
24	chr5:89800800-89808200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:89800800-89808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:89800800-89811600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:89800800-89814600	Weak transcription	HMEC	breast
28	chr5:89801000-89813600	Weak transcription	NH-A	brain
29	chr5:89801000-89814600	Weak transcription	HUVEC	blood vessel
30	chr5:89801200-89809200	Weak transcription	A549	lung
31	chr5:89802600-89824600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:89803200-89810400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:89803200-89817600	Weak transcription	Small Intestine	intestine
34	chr5:89804000-89813400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:89804000-89816400	Weak transcription	Thymus	Thymus
36	chr5:89804800-89814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:89805600-89812200	Weak transcription	HSMM	muscle
38	chr5:89805600-89819800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:89805600-89823200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:89805800-89819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:89806000-89814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:89806400-89809800	Weak transcription	K562	blood
43	chr5:89806400-89818200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:89806600-89808600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:89807000-89810400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:89807400-89808600	Enhancers	Osteobl	bone
47	chr5:89807400-89808800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:89807400-89810000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:89807800-89810400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:89807800-89812200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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