Variant report

Variant	rs10478462
Chromosome Location	chr5:119777034-119777035
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	chr5:119775909..119777540-chr5:119783720..119785397,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10036031	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10068206	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478461	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12019326	1.00[ASN][1000 genomes]
rs12719276	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154169	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179086	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361012	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432459	1.00[ASN][1000 genomes]
rs17146502	1.00[ASN][1000 genomes]
rs17146514	1.00[ASN][1000 genomes]
rs17146517	1.00[ASN][1000 genomes]
rs17146599	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099297	1.00[ASN][1000 genomes]
rs28673517	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33936956	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57783585	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861613	1.00[ASN][1000 genomes]
rs6864618	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868582	1.00[ASN][1000 genomes]
rs6878650	1.00[ASN][1000 genomes]
rs6883355	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883954	1.00[ASN][1000 genomes]
rs6898093	1.00[ASN][1000 genomes]
rs71586481	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782016	1.00[ASN][1000 genomes]
rs73784904	1.00[ASN][1000 genomes]
rs73784905	1.00[ASN][1000 genomes]
rs7702248	1.00[ASN][1000 genomes]
rs7708836	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119769200-119780800	Weak transcription	HSMM	muscle
2	chr5:119772200-119777400	Weak transcription	Fetal Heart	heart
3	chr5:119773200-119781000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:119775800-119777600	Weak transcription	Psoas Muscle	Psoas

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