Variant report

Variant	rs17216395
Chromosome Location	chr6:45779929-45779930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45771711..45773826-chr6:45778233..45780719,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1020484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10498764	0.82[AMR][1000 genomes]
rs167680	1.00[AFR][1000 genomes]
rs17216353	1.00[AFR][1000 genomes]
rs17216367	1.00[AFR][1000 genomes]
rs17216374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288467	1.00[AFR][1000 genomes]
rs17288495	1.00[AFR][1000 genomes]
rs17288516	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2122285	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2122286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2396558	0.84[AMR][1000 genomes]
rs321328	1.00[AFR][1000 genomes]
rs59059903	0.80[AMR][1000 genomes]
rs59247476	0.92[AMR][1000 genomes]
rs60316347	0.82[AMR][1000 genomes]
rs62400453	1.00[AFR][1000 genomes]
rs62401860	1.00[AFR][1000 genomes]
rs62401863	1.00[AFR][1000 genomes]
rs62401864	1.00[AFR][1000 genomes]
rs62401866	1.00[AFR][1000 genomes]
rs62401868	1.00[AFR][1000 genomes]
rs62401869	1.00[AFR][1000 genomes]
rs62401871	1.00[AFR][1000 genomes]
rs62401877	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62401878	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62401880	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62401881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62401882	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62401883	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62401884	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6918532	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9463121	0.82[AMR][1000 genomes]
rs9463122	0.82[AMR][1000 genomes]
rs9463123	0.84[AMR][1000 genomes]
rs9463124	0.82[AMR][1000 genomes]
rs9472574	0.84[AMR][1000 genomes]
rs9472576	0.82[AMR][1000 genomes]
rs9472577	0.82[AMR][1000 genomes]
rs9472578	0.82[AMR][1000 genomes]
rs9472579	0.82[AMR][1000 genomes]
rs9472585	0.89[AMR][1000 genomes];0.87[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45763600-45780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45775800-45780600	Weak transcription	Fetal Kidney	kidney
3	chr6:45776600-45780400	Weak transcription	Brain Germinal Matrix	brain
4	chr6:45777000-45780600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:45777200-45780400	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:45779800-45780800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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