Variant report

Variant	rs6994255
Chromosome Location	chr8:20414464-20414465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20407943..20410567-chr8:20412938..20415018,2	K562	blood:
2	chr8:20406914..20408549-chr8:20413495..20415864,2	K562	blood:

Variant related genes	Relation type
ENSG00000253178	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1016646	1.00[AFR][1000 genomes]
rs10464996	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10503682	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12056831	1.00[AFR][1000 genomes]
rs1351381	0.92[EUR][1000 genomes]
rs1376004	1.00[AFR][1000 genomes]
rs1383248	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17092434	1.00[AFR][1000 genomes]
rs17092692	0.92[EUR][1000 genomes]
rs17092696	0.92[EUR][1000 genomes]
rs17092697	0.92[EUR][1000 genomes]
rs17092700	0.92[EUR][1000 genomes]
rs17092702	0.92[EUR][1000 genomes]
rs17092705	0.95[EUR][1000 genomes]
rs17092707	0.95[EUR][1000 genomes]
rs17092733	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17419795	1.00[AFR][1000 genomes]
rs17420434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17420448	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17420455	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17420595	0.92[EUR][1000 genomes]
rs17420602	0.92[EUR][1000 genomes]
rs17491153	1.00[AFR][1000 genomes]
rs17492344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492491	0.92[EUR][1000 genomes]
rs17492862	1.00[AFR][1000 genomes]
rs1947258	1.00[AFR][1000 genomes]
rs1979430	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1979431	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1979432	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2167173	1.00[AFR][1000 genomes]
rs35673104	1.00[AFR][1000 genomes]
rs4610764	1.00[AFR][1000 genomes]
rs4921713	1.00[AFR][1000 genomes]
rs4922187	1.00[AFR][1000 genomes]
rs4922189	1.00[AFR][1000 genomes]
rs4922200	1.00[AFR][1000 genomes]
rs4922210	1.00[AFR][1000 genomes]
rs6989281	1.00[AFR][1000 genomes]
rs6999584	1.00[AFR][1000 genomes]
rs6999736	1.00[AFR][1000 genomes]
rs73614170	0.87[EUR][1000 genomes]
rs7465534	1.00[AFR][1000 genomes]
rs7830125	1.00[AFR][1000 genomes]
rs7845060	1.00[AFR][1000 genomes]
rs950511	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20413800-20415200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:20414400-20415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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