Variant report

Variant	rs724282
Chromosome Location	chr6:164457840-164457841
allele	C/T
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	chr6:164457135..164459137-chr6:164459767..164461428,2	K562	blood:
3	chr6:164456748..164459367-chr6:164462676..164464494,3	K562	blood:
4	chr6:164457700..164459500-chr6:164464976..164467950,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1007176	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1010549	0.97[ASN][1000 genomes]
rs16896061	0.93[ASN][1000 genomes]
rs2064792	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064793	0.81[EUR][1000 genomes]
rs206696	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs206729	0.94[ASN][1000 genomes]
rs2070284	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070285	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070286	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070287	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2874705	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs368330	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs381500	0.95[ASN][1000 genomes]
rs3846781	0.97[ASN][1000 genomes]
rs415182	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs421640	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs437702	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs438716	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs446073	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs454187	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4709032	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709033	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709034	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709035	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709036	0.82[ASN][1000 genomes]
rs4709818	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4709819	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4709820	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4709821	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62435861	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs672706	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs689056	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6901582	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6905119	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs724281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724283	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736661	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7743991	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7765982	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295254	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356181	0.96[ASN][1000 genomes]
rs9356182	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9458972	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9458973	0.88[AMR][1000 genomes];0.97[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164443200-164459000	Weak transcription	Spleen	Spleen
2	chr6:164446400-164462800	Weak transcription	Right Atrium	heart
3	chr6:164455600-164459200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:164456400-164458400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:164457200-164458200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:164457200-164458600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:164457400-164458200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:164457400-164459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:164457600-164458000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:164457600-164458800	Weak transcription	Left Ventricle	heart
11	chr6:164457600-164461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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