Variant report

Variant	rs205986
Chromosome Location	chr6:164440916-164440917
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	chr6:164439488..164441504-chr6:164445154..164447554,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1005541	0.82[EUR][1000 genomes]
rs105481	0.84[EUR][1000 genomes]
rs189976	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs189977	0.84[EUR][1000 genomes]
rs189978	0.85[EUR][1000 genomes]
rs205983	0.82[EUR][1000 genomes]
rs205988	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs205989	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205991	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs206001	0.83[EUR][1000 genomes]
rs206002	0.83[EUR][1000 genomes]
rs206003	0.83[EUR][1000 genomes]
rs206005	0.81[EUR][1000 genomes]
rs206006	0.84[EUR][1000 genomes]
rs206007	0.84[EUR][1000 genomes]
rs206008	0.84[EUR][1000 genomes]
rs206009	0.84[EUR][1000 genomes]
rs206011	0.82[EUR][1000 genomes]
rs206012	0.84[EUR][1000 genomes]
rs206013	0.84[EUR][1000 genomes]
rs34113046	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373265	0.86[EUR][1000 genomes]
rs374714	0.86[EUR][1000 genomes]
rs375691	0.86[EUR][1000 genomes]
rs386383	0.86[EUR][1000 genomes]
rs388305	0.86[EUR][1000 genomes]
rs412729	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs448500	0.86[EUR][1000 genomes]
rs4709806	0.82[EUR][1000 genomes]
rs4709807	0.82[EUR][1000 genomes]
rs4709808	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709809	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709812	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709813	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709814	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609579	0.82[EUR][1000 genomes]
rs634516	0.81[EUR][1000 genomes]
rs85750	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs85751	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9355452	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1019703	chr6:164424683-164488780	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796945	chr6:164430826-164448156	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs205986	QKI	cis	cerebellum	SCAN
rs205986	SLC22A3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164431600-164442600	Weak transcription	Right Ventricle	heart
2	chr6:164436000-164442800	Weak transcription	Right Atrium	heart
3	chr6:164437400-164442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:164437400-164443000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:164438200-164442400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:164439000-164442800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:164439200-164444600	Weak transcription	Fetal Heart	heart

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