Variant report

Variant	rs28542552
Chromosome Location	chr8:67024136-67024137
allele	A/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	MAZ	chr8:67024129-67024292	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67017659..67020444-chr8:67021463..67024144,2	K562	blood:
3	chr8:67013473..67015902-chr8:67022725..67024628,2	K562	blood:

Variant related genes	Relation type
ENSG00000253190	TF binding region
ENSG00000179041	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10081623	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10091625	0.97[EUR][1000 genomes]
rs10093091	1.00[EUR][1000 genomes]
rs10099957	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104916	1.00[EUR][1000 genomes]
rs10107870	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109602	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10448012	0.97[EUR][1000 genomes]
rs1044938	0.97[EUR][1000 genomes]
rs1044942	0.97[EUR][1000 genomes]
rs10957367	0.87[EUR][1000 genomes]
rs11986216	1.00[EUR][1000 genomes]
rs11990370	0.97[EUR][1000 genomes]
rs11997416	1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs16932527	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932535	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932564	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932632	0.97[EUR][1000 genomes]
rs1814583	0.97[EUR][1000 genomes]
rs28421720	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703095	0.97[EUR][1000 genomes]
rs3176921	1.00[EUR][1000 genomes]
rs4279579	0.96[EUR][1000 genomes]
rs4503082	1.00[EUR][1000 genomes]
rs5030877	1.00[EUR][1000 genomes]
rs56394731	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472252	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472254	1.00[EUR][1000 genomes]
rs6472255	1.00[EUR][1000 genomes]
rs6472256	1.00[EUR][1000 genomes]
rs6472257	0.97[EUR][1000 genomes]
rs6990624	1.00[EUR][1000 genomes]
rs6996265	1.00[EUR][1000 genomes]
rs6998761	1.00[EUR][1000 genomes]
rs6999780	0.97[EUR][1000 genomes]
rs7003017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003450	0.97[EUR][1000 genomes]
rs7006903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013524	0.97[EUR][1000 genomes]
rs7816410	0.97[EUR][1000 genomes]
rs7818902	1.00[EUR][1000 genomes]
rs7820617	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822243	1.00[EUR][1000 genomes]
rs7823108	0.97[EUR][1000 genomes]
rs7823304	0.97[EUR][1000 genomes]
rs7826464	1.00[EUR][1000 genomes]
rs7827407	1.00[EUR][1000 genomes]
rs7828111	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830926	1.00[EUR][1000 genomes]
rs7831234	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838125	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838500	1.00[EUR][1000 genomes]
rs7842707	1.00[EUR][1000 genomes]
rs7842761	1.00[EUR][1000 genomes]
rs7843038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843605	1.00[EUR][1000 genomes]
rs7846184	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694082	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:67018600-67024600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:67019600-67024600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:67020800-67024400	Weak transcription	K562	blood
4	chr8:67023000-67024800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:67023600-67024800	Weak transcription	HSMM	muscle
6	chr8:67023800-67024400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:67023800-67024800	Weak transcription	HSMMtube	muscle
8	chr8:67024000-67024200	Enhancers	HUES48 Cell Line	embryonic stem cell

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