Variant report

Variant	rs5007575
Chromosome Location	chr6:28650690-28650691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28642383..28644323-chr6:28648282..28651107,2	K562	blood:
2	chr6:28101995..28104180-chr6:28650669..28652910,2	K562	blood:
3	chr6:28649582..28652211-chr6:28693042..28694734,2	K562	blood:
4	chr6:28649222..28651616-chr6:28694274..28696265,2	MCF-7	breast:
5	chr6:28564953..28566880-chr6:28649469..28651175,2	MCF-7	breast:
6	chr6:28303799..28306722-chr6:28648744..28650916,2	K562	blood:
7	chr6:28582959..28585078-chr6:28649793..28652398,2	K562	blood:

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction
ENSG00000232040	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10434846	0.94[ASN][1000 genomes]
rs10733177	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10755647	0.94[ASN][1000 genomes]
rs10807032	0.94[ASN][1000 genomes]
rs10807040	0.94[ASN][1000 genomes]
rs11758055	0.94[ASN][1000 genomes]
rs1474986	0.88[ASN][1000 genomes]
rs2057295	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2394119	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28382606	0.94[ASN][1000 genomes]
rs34358978	0.88[ASN][1000 genomes]
rs34931542	0.88[ASN][1000 genomes]
rs381493	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs384399	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3852211	0.94[ASN][1000 genomes]
rs389603	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs392471	0.83[ASN][1000 genomes]
rs394772	0.94[ASN][1000 genomes]
rs399558	0.91[ASN][1000 genomes]
rs3999023	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs402426	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs404343	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs408255	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs411538	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4121090	0.94[ASN][1000 genomes]
rs418628	0.94[ASN][1000 genomes]
rs418898	0.94[ASN][1000 genomes]
rs420436	0.94[ASN][1000 genomes]
rs420463	0.94[ASN][1000 genomes]
rs422089	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs424426	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs426922	0.94[ASN][1000 genomes]
rs429875	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs434636	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs442174	0.85[ASN][1000 genomes]
rs443924	0.94[ASN][1000 genomes]
rs449074	0.94[ASN][1000 genomes]
rs454746	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4711176	0.94[ASN][1000 genomes]
rs4713172	0.94[ASN][1000 genomes]
rs4713174	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55860825	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6456829	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6456832	0.94[ASN][1000 genomes]
rs6456833	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6906826	0.94[ASN][1000 genomes]
rs6923163	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6925972	0.94[ASN][1000 genomes]
rs6935589	0.88[ASN][1000 genomes]
rs6937042	0.88[ASN][1000 genomes]
rs7381746	0.94[ASN][1000 genomes]
rs7382159	0.94[ASN][1000 genomes]
rs7382309	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7382583	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7761914	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7771490	0.94[ASN][1000 genomes]
rs7773193	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs911177	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs911178	0.83[ASN][1000 genomes]
rs9393922	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9393923	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9461464	0.88[ASN][1000 genomes]
rs9468394	0.94[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	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28642600-28653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28649600-28651000	Bivalent Enhancer	Dnd41	blood
3	chr6:28649800-28651000	Flanking Active TSS	K562	blood
4	chr6:28650200-28651400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:28650400-28650800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:28650400-28650800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:28650600-28651000	Bivalent Enhancer	HepG2	liver
8	chr6:28650600-28651400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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