Variant report

Variant	rs4593140
Chromosome Location	chr4:101001592-101001593
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	chr4:100869528..100872749-chr4:101000767..101003889,3	K562	blood:
2	chr2:88314704..88316254-chr4:101000816..101002316,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222724	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10029894	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11729426	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11732283	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12649983	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4128310	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4235442	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4635824	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699389	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4699390	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699391	0.84[ASN][1000 genomes]
rs4699392	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4699770	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699773	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55705206	0.99[ASN][1000 genomes]
rs61294522	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62306122	0.99[ASN][1000 genomes]
rs62306150	0.82[EUR][1000 genomes]
rs6532843	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6834862	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6837281	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6840267	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6856293	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7671736	0.80[EUR][1000 genomes]
rs7697932	0.96[ASN][1000 genomes]
rs7698869	0.83[EUR][1000 genomes];0.83[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	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100996600-101002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:100997000-101009000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:100997200-101002400	Weak transcription	NHEK	skin
4	chr4:100998200-101002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:101000000-101001600	Enhancers	Dnd41	blood
6	chr4:101000200-101001600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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