Variant report

Variant	rs394999
Chromosome Location	chr6:164459226-164459227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164457662..164460497-chr6:164462488..164464176,2	K562	blood:
2	chr6:164456748..164459367-chr6:164462676..164464494,3	K562	blood:
3	chr6:164457700..164459500-chr6:164464976..164467950,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs183268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205995	0.94[AFR][1000 genomes]
rs205997	1.00[AMR][1000 genomes]
rs206000	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206689	1.00[AMR][1000 genomes]
rs206690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs369452	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs373183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs374320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs383614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs383720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs384008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs395240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs409958	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs410781	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs413058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs444176	1.00[AMR][1000 genomes]
rs445024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs446252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs449084	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs450401	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs451353	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs454476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs655061	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164446400-164462800	Weak transcription	Right Atrium	heart
2	chr6:164457400-164459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:164457600-164461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:164458200-164459400	Enhancers	Fetal Muscle Leg	muscle
5	chr6:164458200-164459400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:164458400-164459400	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:164459000-164460800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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