Variant report

Variant	esv3342283
Chromosome Location	chr5:89798148-89798686
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89787516..89789972-chr5:89796977..89800489,3	K562	blood:
2	chr5:89797561..89800163-chr5:89806524..89808529,2	K562	blood:
3	chr5:89774118..89776549-chr5:89797426..89799656,2	K562	blood:
4	chr5:89795929..89798320-chr5:89799326..89801765,2	K562	blood:
5	chr5:89798219..89802006-chr5:89813801..89815608,3	K562	blood:
6	chr5:89795388..89799823-chr5:89809630..89813266,4	K562	blood:
7	chr5:89768849..89770489-chr5:89796920..89799253,2	K562	blood:
8	chr5:89787516..89790569-chr5:89797724..89800540,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176055	chromatin interactions
ENSG00000113356	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368417046	chr5:89798167-89798168	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3840321	chr5:89798194-89798195	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs397732782	chr5:89798203-89798204	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537869037	chr5:89798214-89798215	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7725495	chr5:89798229-89798230	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573566131	chr5:89798270-89798271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140952617	chr5:89798291-89798292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs578210991	chr5:89798477-89798478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534483017	chr5:89798494-89798495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536221441	chr5:89798547-89798548	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs574272616	chr5:89798579-89798580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34374200	chr5:89798618-89798619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572097463	chr5:89798621-89798622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10675068	chr5:89798622-89798623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397795017	chr5:89798634-89798635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372656453	chr5:89798673-89798674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89771600-89798800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:89771600-89814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:89773600-89798800	Weak transcription	HMEC	breast
4	chr5:89773800-89816000	Weak transcription	HepG2	liver
5	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:89774000-89814600	Weak transcription	Dnd41	blood
7	chr5:89774400-89814600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:89776200-89799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:89776200-89800400	Weak transcription	HUVEC	blood vessel
10	chr5:89776600-89798800	Weak transcription	NHEK	skin
11	chr5:89777000-89806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89780400-89799800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:89780400-89810800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:89780800-89800000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:89780800-89800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:89781000-89799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:89783000-89800800	Weak transcription	A549	lung
19	chr5:89783800-89813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:89784800-89814600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:89785200-89798800	Weak transcription	NHDF-Ad	bronchial
22	chr5:89785400-89798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:89785400-89799400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:89785400-89814600	Weak transcription	NHLF	lung
25	chr5:89786200-89799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:89788800-89799800	Weak transcription	NH-A	brain
27	chr5:89789800-89798200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr5:89790200-89809600	Weak transcription	GM12878-XiMat	blood
29	chr5:89791400-89814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:89791600-89813800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:89791600-89814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:89792200-89810400	Weak transcription	Left Ventricle	heart
33	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
34	chr5:89794800-89801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:89795200-89798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:89795400-89800800	Weak transcription	K562	blood
37	chr5:89795600-89798600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:89796800-89799000	Weak transcription	Osteobl	bone
39	chr5:89797600-89814600	Weak transcription	Adipose Nuclei	Adipose
40	chr5:89797600-89824200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:89798000-89798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:89798000-89814600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:89798200-89801800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:89798600-89799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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