Variant report

Variant	rs205991
Chromosome Location	chr6:164448156-164448157
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs189976	0.92[EUR][1000 genomes]
rs205986	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs205988	0.95[EUR][1000 genomes]
rs205989	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34113046	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412729	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4709808	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709809	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709812	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709813	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709814	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs85750	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs85751	0.95[EUR][1000 genomes]
rs9355452	0.84[EUR][1000 genomes];0.96[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
rs205991	SLC22A3	cis	parietal	SCAN
rs205991	QKI	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164443200-164459000	Weak transcription	Spleen	Spleen
2	chr6:164444400-164448400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:164445000-164457400	Weak transcription	Fetal Heart	heart
4	chr6:164445400-164448400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:164446400-164448400	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:164446400-164462800	Weak transcription	Right Atrium	heart
7	chr6:164446600-164448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:164447000-164450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:164447200-164449200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:164447400-164449200	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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