Variant report

Variant	rs56161473
Chromosome Location	chr5:98389749-98389750
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98263522..98265138-chr5:98387990..98390059,2	K562	blood:
2	chr5:98383000..98385352-chr5:98389341..98391227,2	K562	blood:
3	chr5:98380774..98382575-chr5:98387659..98389837,2	K562	blood:
4	chr5:98266316..98268754-chr5:98386981..98389928,2	MCF-7	breast:
5	chr5:98263638..98267802-chr5:98387576..98389835,3	K562	blood:
6	chr5:98252569..98255536-chr5:98389385..98390974,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10054188	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056306	0.80[ASN][1000 genomes]
rs10060754	0.80[ASN][1000 genomes]
rs10064016	0.80[ASN][1000 genomes]
rs11242579	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742975	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11750764	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12659212	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121668	0.80[ASN][1000 genomes]
rs2369574	0.80[ASN][1000 genomes]
rs4128275	0.85[ASN][1000 genomes]
rs4329038	0.80[ASN][1000 genomes]
rs55946434	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57544561	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59910509	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61110940	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61198176	0.80[ASN][1000 genomes]
rs6596673	0.80[ASN][1000 genomes]
rs6596679	0.80[ASN][1000 genomes]
rs6596680	0.80[ASN][1000 genomes]
rs6596681	0.80[ASN][1000 genomes]
rs6866426	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6888668	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6890939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700837	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7712453	0.80[ASN][1000 genomes]
rs7714788	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7717324	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7730642	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7735294	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735379	0.86[ASN][1000 genomes]
rs7737983	0.82[AMR][1000 genomes];0.98[ASN][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	nsv1024391	chr5:98355665-98653657	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv599118	chr5:98358191-99029453	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv599119	chr5:98358191-99315677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:98381600-98395800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:98382400-98390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:98387800-98396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:98388600-98395800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:98389400-98392200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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