Variant report

Variant	rs4957172
Chromosome Location	chr5:41882309-41882310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41881531..41884108-chr5:41902805..41905707,3	K562	blood:
2	chr5:41871626..41873159-chr5:41881683..41883592,2	K562	blood:
3	chr5:41877897..41883547-chr5:41886069..41890189,5	K562	blood:
4	chr5:41881132..41883774-chr5:41884323..41886903,2	K562	blood:
5	chr5:41874942..41877318-chr5:41878701..41882367,4	K562	blood:

Variant related genes	Relation type
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1035486	1.00[AMR][1000 genomes]
rs1355089	1.00[AMR][1000 genomes]
rs1494392	0.97[AMR][1000 genomes]
rs1582539	1.00[AMR][1000 genomes]
rs16871793	1.00[AMR][1000 genomes]
rs16871799	1.00[AMR][1000 genomes]
rs16871844	1.00[AMR][1000 genomes]
rs16871938	1.00[AMR][1000 genomes]
rs16871940	1.00[AMR][1000 genomes]
rs17739462	1.00[AMR][1000 genomes]
rs17847285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231917	1.00[AFR][1000 genomes]
rs2329815	1.00[AMR][1000 genomes]
rs34226693	1.00[AFR][1000 genomes]
rs3863161	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863162	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863163	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863164	1.00[AFR][1000 genomes]
rs4245982	0.91[AMR][1000 genomes]
rs4358568	1.00[AFR][1000 genomes]
rs4957170	1.00[AMR][1000 genomes]
rs4957171	1.00[AMR][1000 genomes]
rs4957173	1.00[AMR][1000 genomes]
rs4957174	1.00[AMR][1000 genomes]
rs4957175	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4957176	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4957177	0.88[AMR][1000 genomes]
rs4957407	1.00[AMR][1000 genomes]
rs4957409	1.00[AMR][1000 genomes]
rs4957418	1.00[AMR][1000 genomes]
rs4957419	1.00[AMR][1000 genomes]
rs4957421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957422	1.00[AMR][1000 genomes]
rs4957423	1.00[AMR][1000 genomes]
rs4957425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957429	1.00[AMR][1000 genomes]
rs4957431	1.00[AMR][1000 genomes]
rs4957432	1.00[AMR][1000 genomes]
rs4957433	0.94[AMR][1000 genomes]
rs4957435	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4957439	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6869822	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
6	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41881200-41882800	Weak transcription	K562	blood

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