Variant report

Variant	rs554350
Chromosome Location	chr7:103380131-103380132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103373703..103377683-chr7:103378422..103380704,3	K562	blood:
2	chr7:103374430..103376979-chr7:103378353..103381015,4	K562	blood:

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

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

rs_ID	r²[population]
rs10247465	0.85[JPT][hapmap]
rs10265101	0.85[JPT][hapmap]
rs477444	0.81[EUR][1000 genomes]
rs478549	0.82[EUR][1000 genomes]
rs491263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517761	0.85[JPT][hapmap]
rs525692	0.81[EUR][1000 genomes]
rs528528	0.81[EUR][1000 genomes]
rs531330	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs539327	0.85[JPT][hapmap]
rs541768	0.82[EUR][1000 genomes]
rs562393	0.81[EUR][1000 genomes]
rs570418	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs571990	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs620243	0.82[EUR][1000 genomes]
rs621223	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs622657	0.81[EUR][1000 genomes]
rs626065	0.81[JPT][hapmap]
rs634500	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs649310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs683390	0.81[EUR][1000 genomes]
rs722613	0.82[CEU][hapmap]
rs916603	0.81[JPT][hapmap]

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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103375200-103391000	Weak transcription	HepG2	liver

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