Variant report

Variant	rs4557668
Chromosome Location	chr8:130206261-130206262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11986766	0.81[ASN][1000 genomes]
rs11989889	0.81[ASN][1000 genomes]
rs11994734	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994768	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997752	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28665337	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320514	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4382434	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4382435	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4422741	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472475	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4484652	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571701	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733684	0.81[ASN][1000 genomes]
rs5003704	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835630	0.81[ASN][1000 genomes]
rs56361426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397715	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57228947	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59047450	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59282112	0.88[AMR][1000 genomes]
rs59844464	0.83[EUR][1000 genomes]
rs59877651	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61627980	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990296	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6995223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709044	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73709047	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73709050	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73709051	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73709052	0.83[EUR][1000 genomes]
rs73709053	0.83[EUR][1000 genomes]
rs73709054	0.83[EUR][1000 genomes]
rs73709055	0.83[EUR][1000 genomes]
rs73709056	0.83[EUR][1000 genomes]
rs73710310	0.83[EUR][1000 genomes]
rs73710312	0.83[EUR][1000 genomes]
rs7460736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815940	0.85[AMR][1000 genomes]
rs7822386	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7826130	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7826294	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7826688	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7830899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831741	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7831957	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832169	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832380	0.85[AMR][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	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891445	chr8:130152109-130224721	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv831460	chr8:130185680-130366217	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130195600-130207600	Weak transcription	Fetal Thymus	thymus
2	chr8:130195800-130208000	Weak transcription	Thymus	Thymus
3	chr8:130196800-130208600	Genic enhancers	Dnd41	blood
4	chr8:130205400-130214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:130206000-130206400	Enhancers	Cortex derived primary cultured neurospheres	brain

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