Variant report

Variant	rs3999023
Chromosome Location	chr6:28653482-28653483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28652217..28653747-chr6:28722642..28724791,2	K562	blood:
2	chr6:27862359..27864644-chr6:28653180..28655557,2	K562	blood:
3	chr6:27861212..27864644-chr6:28652943..28655557,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10080420	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10434846	1.00[ASN][1000 genomes]
rs10447392	0.91[AFR][1000 genomes]
rs10733177	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755647	1.00[ASN][1000 genomes]
rs10807032	1.00[ASN][1000 genomes]
rs10807036	0.83[ASN][1000 genomes]
rs10807040	1.00[ASN][1000 genomes]
rs11758055	1.00[ASN][1000 genomes]
rs12332986	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1474986	0.94[ASN][1000 genomes]
rs1884938	0.89[AFR][1000 genomes]
rs2057295	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191036	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2394119	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358978	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34931542	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs381493	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384399	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389603	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392471	0.88[ASN][1000 genomes]
rs394772	1.00[ASN][1000 genomes]
rs399558	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402426	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404343	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408255	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121090	1.00[ASN][1000 genomes]
rs418628	1.00[ASN][1000 genomes]
rs418898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420436	1.00[ASN][1000 genomes]
rs420463	1.00[ASN][1000 genomes]
rs422089	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424426	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429875	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434636	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442174	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449074	1.00[ASN][1000 genomes]
rs454746	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711176	1.00[ASN][1000 genomes]
rs4713172	1.00[ASN][1000 genomes]
rs4713174	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007575	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs55860825	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456820	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456833	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899512	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906826	1.00[ASN][1000 genomes]
rs6923163	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925972	1.00[ASN][1000 genomes]
rs6927023	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935589	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937042	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941222	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7381746	1.00[ASN][1000 genomes]
rs7382159	1.00[ASN][1000 genomes]
rs7382309	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7382583	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738536	0.89[AFR][1000 genomes]
rs7761914	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771490	1.00[ASN][1000 genomes]
rs7773193	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911177	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911178	0.88[ASN][1000 genomes]
rs9393922	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393923	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468384	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468394	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr6:28642600-28653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28651000-28654200	Enhancers	K562	blood
3	chr6:28651400-28654000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:28652200-28654000	Weak transcription	A549	lung
5	chr6:28653000-28654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:28653400-28653600	Enhancers	Hela-S3	cervix
7	chr6:28653400-28654000	Enhancers	HUVEC	blood vessel

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