Variant report

Variant	rs4473788
Chromosome Location	chr5:178069043-178069044
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178063343..178066239-chr5:178068092..178071855,3	K562	blood:
2	chr5:178068786..178070485-chr5:178285639..178288443,2	MCF-7	breast:
3	chr5:178054847..178056678-chr5:178067285..178069085,2	K562	blood:
4	chr5:178068917..178070441-chr5:178081330..178082973,2	MCF-7	breast:
5	chr5:178053270..178056347-chr5:178066420..178069487,3	K562	blood:
6	chr5:178063122..178065248-chr5:178068092..178070072,3	K562	blood:
7	chr5:178052435..178056379-chr5:178060810..178069102,10	MCF-7	breast:
8	chr5:178067993..178069564-chr5:178084194..178086392,2	K562	blood:
9	chr5:178060070..178062652-chr5:178068693..178071518,2	MCF-7	breast:
10	chr5:178058537..178060660-chr5:178067167..178069118,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178338	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10903228	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249555	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952857	0.92[ASN][1000 genomes]
rs11954313	1.00[ASN][1000 genomes]
rs11954316	1.00[ASN][1000 genomes]
rs11954364	1.00[ASN][1000 genomes]
rs174438	0.85[ASN][1000 genomes]
rs262054	0.92[ASN][1000 genomes]
rs262057	0.92[ASN][1000 genomes]
rs262070	0.85[ASN][1000 genomes]
rs3925516	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866974	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871372	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889322	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346597	0.92[ASN][1000 genomes]
rs7716274	0.92[ASN][1000 genomes]
rs7718720	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178065000-178069600	Weak transcription	Spleen	Spleen
2	chr5:178067400-178070400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:178067400-178070800	Enhancers	HMEC	breast
4	chr5:178067600-178070200	Enhancers	NHDF-Ad	bronchial
5	chr5:178067600-178070800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:178067600-178072400	Enhancers	Osteobl	bone
7	chr5:178068000-178070200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:178068600-178070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:178068800-178069800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:178068800-178070600	Enhancers	HUVEC	blood vessel
11	chr5:178068800-178070600	Enhancers	NH-A	brain
12	chr5:178069000-178069400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:178069000-178069400	Flanking Active TSS	Hela-S3	cervix
14	chr5:178069000-178069400	Flanking Active TSS	NHEK	skin
15	chr5:178069000-178069600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:178069000-178069600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:178069000-178070000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:178069000-178070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178069000-178070200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:178069000-178070200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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