Variant report

Variant	rs1530302
Chromosome Location	chr4:47253991-47253992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10009164	0.87[ASN][1000 genomes]
rs10010157	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016815	0.87[ASN][1000 genomes]
rs10016894	0.87[ASN][1000 genomes]
rs10018597	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11931599	0.89[ASN][1000 genomes]
rs1372497	0.87[ASN][1000 genomes]
rs1372498	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1372499	0.86[ASN][1000 genomes]
rs1442108	0.87[ASN][1000 genomes]
rs1470208	0.87[ASN][1000 genomes]
rs1583952	0.86[ASN][1000 genomes]
rs16860067	0.87[ASN][1000 genomes]
rs16860071	0.86[ASN][1000 genomes]
rs16860083	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16860087	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17600169	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28482891	0.87[ASN][1000 genomes]
rs28498348	0.87[ASN][1000 genomes]
rs28587597	0.86[ASN][1000 genomes]
rs28605268	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28663255	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098797	0.90[ASN][1000 genomes]
rs34457317	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4481218	0.87[ASN][1000 genomes]
rs4695200	0.84[ASN][1000 genomes]
rs4695201	0.84[ASN][1000 genomes]
rs55807683	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447541	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666487	0.89[ASN][1000 genomes]
rs7671741	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
3	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv980402	chr4:47225940-47257071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv879004	chr4:47234200-47322190	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47253200-47254000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:47253400-47254000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:47253400-47254000	Enhancers	Brain Anterior Caudate	brain
4	chr4:47253600-47254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:47253600-47254000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:47253600-47254000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:47253800-47254400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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