Variant report

Variant	rs719080
Chromosome Location	chr5:5503835-5503836
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	chr5:5503345..5507933-chr5:5508624..5513439,4	K562	blood:
2	chr5:5503345..5507933-chr5:5508624..5513984,5	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10063885	0.84[CEU][hapmap]
rs2264076	0.83[ASN][1000 genomes]
rs252928	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs252929	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs252930	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs252934	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs252935	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs252937	0.90[ASN][1000 genomes]
rs252938	0.80[EUR][1000 genomes]
rs252940	0.82[EUR][1000 genomes]
rs2560298	0.90[CEU][hapmap]
rs2560299	0.90[CEU][hapmap]
rs2560300	0.90[CEU][hapmap]
rs2578513	0.88[EUR][1000 genomes]
rs2578514	0.88[EUR][1000 genomes]
rs2578515	0.88[EUR][1000 genomes]
rs2578516	0.88[EUR][1000 genomes]
rs2578518	0.80[ASN][1000 genomes]
rs2578520	0.84[ASN][1000 genomes]
rs2578521	0.80[ASN][1000 genomes]
rs2578522	0.80[ASN][1000 genomes]
rs2578527	0.87[EUR][1000 genomes]
rs2578553	0.90[CEU][hapmap]
rs2578554	0.85[CEU][hapmap]
rs2578557	0.90[CEU][hapmap]
rs2578564	0.84[CEU][hapmap]
rs2591694	0.87[EUR][1000 genomes]
rs2591696	0.86[EUR][1000 genomes]
rs2591697	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2591708	0.80[ASN][1000 genomes]
rs2619829	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2619830	0.80[ASN][1000 genomes]
rs2619831	0.80[ASN][1000 genomes]
rs2619832	0.80[ASN][1000 genomes]
rs2619833	0.80[ASN][1000 genomes]
rs2619855	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2652702	0.80[ASN][1000 genomes]
rs2652703	0.80[ASN][1000 genomes]
rs2652704	0.80[ASN][1000 genomes]
rs2652705	0.87[EUR][1000 genomes]
rs2652706	0.84[ASN][1000 genomes]
rs2652707	0.86[EUR][1000 genomes]
rs2652715	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2652726	0.80[ASN][1000 genomes]
rs2918251	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918260	0.85[CEU][hapmap]
rs2928223	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2928225	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098377	0.84[CEU][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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5498600-5505000	Weak transcription	Fetal Brain Male	brain
2	chr5:5499800-5509400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5503800-5504000	Enhancers	GM12878-XiMat	blood

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