Variant report

Variant	rs12520342
Chromosome Location	chr5:29779618-29779619
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	chr5:29774460..29776079-chr5:29777604..29779622,2	MCF-7	breast:
2	chr5:29779299..29782014-chr5:29783552..29785289,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10520952	0.83[CHB][hapmap];0.80[AFR][1000 genomes]
rs10940827	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12513511	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521052	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522971	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1379051	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1379053	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1379054	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899381	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899407	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16899419	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs1993437	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2019012	0.91[CEU][hapmap]
rs2330316	0.95[CHB][hapmap]
rs4343854	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4458582	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4621572	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58802063	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62348668	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62348702	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62348703	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62348704	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62348709	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72743255	0.81[ASN][1000 genomes]
rs72743256	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830244	chr5:29630122-29790611	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29779200-29781200	Enhancers	HepG2	liver
2	chr5:29779400-29781000	Enhancers	A549	lung

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