Variant report

Variant	rs58471723
Chromosome Location	chr5:80583975-80583976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80579977..80582427-chr5:80582466..80585104,2	K562	blood:
2	chr5:80583580..80587936-chr5:80595683..80598863,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131732	Chromatin interaction
ENSG00000247572	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1039326	0.96[EUR][1000 genomes]
rs12653169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654520	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12657721	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12659947	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16878586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703829	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4704716	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55660685	0.87[EUR][1000 genomes]
rs56270508	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57802618	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59621118	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61696419	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80566200-80587800	Weak transcription	Ovary	ovary
2	chr5:80566400-80587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:80566800-80587600	Weak transcription	Right Ventricle	heart
4	chr5:80568000-80585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:80570400-80587200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:80572000-80595200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:80573800-80587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:80574600-80585600	Weak transcription	Dnd41	blood
9	chr5:80577200-80586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:80578000-80586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:80578200-80585200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:80578200-80585600	Weak transcription	Left Ventricle	heart
13	chr5:80578800-80586600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:80578800-80595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:80579000-80586800	Weak transcription	Psoas Muscle	Psoas
16	chr5:80579800-80587400	Weak transcription	Fetal Lung	lung
17	chr5:80579800-80587600	Weak transcription	Liver	Liver
18	chr5:80579800-80589000	Weak transcription	Fetal Heart	heart
19	chr5:80580000-80586800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:80580000-80587000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:80580000-80587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:80580200-80586600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:80580800-80588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:80581000-80587800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:80581200-80587600	Weak transcription	Primary T cells from cord blood	blood
26	chr5:80581600-80587200	Weak transcription	Fetal Kidney	kidney
27	chr5:80581600-80595800	Weak transcription	Small Intestine	intestine
28	chr5:80581800-80588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:80582000-80585200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:80582400-80584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr5:80582600-80584200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:80582600-80587800	Weak transcription	HepG2	liver
33	chr5:80583000-80584200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:80583000-80586800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:80583200-80584000	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:80583200-80588000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:80583400-80588000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:80583600-80586000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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