Variant report

Variant	rs10001721
Chromosome Location	chr4:88146160-88146161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr4:88146088-88146216	K562	blood:	n/a	n/a
2	POLR2A	chr4:88146122-88147517	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:88140799..88143638-chr4:88144609..88146890,3	MCF-7	breast:
2	chr4:88144868..88147552-chr4:88148771..88152275,3	K562	blood:
3	chr4:88141404..88143683-chr4:88145826..88148569,2	MCF-7	breast:
4	chr4:88144868..88146807-chr4:88149730..88152275,2	K562	blood:

Variant related genes	Relation type
KLHL8	TF binding region
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10015288	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1005808	1.00[ASN][1000 genomes]
rs12505327	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505408	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505448	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12509389	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509445	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640151	0.99[ASN][1000 genomes]
rs12645763	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646299	0.95[ASN][1000 genomes]
rs1552145	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563799	0.86[ASN][1000 genomes]
rs17703743	0.86[ASN][1000 genomes]
rs17754784	0.86[ASN][1000 genomes]
rs17754933	0.89[ASN][1000 genomes]
rs17755005	0.88[ASN][1000 genomes]
rs28488787	0.91[ASN][1000 genomes]
rs28495684	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28513782	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355355	1.00[ASN][1000 genomes]
rs4693158	0.86[ASN][1000 genomes]
rs4693804	0.86[ASN][1000 genomes]
rs4693805	0.95[ASN][1000 genomes]
rs4693806	0.93[ASN][1000 genomes]
rs61734704	0.95[ASN][1000 genomes]
rs62306545	0.84[ASN][1000 genomes]
rs62306548	0.95[ASN][1000 genomes]
rs62308861	0.94[ASN][1000 genomes]
rs62308864	0.99[ASN][1000 genomes]
rs62308866	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71607411	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs967552	0.89[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	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88142400-88149800	Weak transcription	K562	blood
2	chr4:88142400-88155200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:88142400-88156400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:88142600-88148200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:88142600-88149400	Weak transcription	HepG2	liver
6	chr4:88145800-88156800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:88146000-88147600	Enhancers	Fetal Brain Male	brain

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