Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27240909..27243187-chr6:27245259..27246882,2	K562	blood:
2	chr6:27217433..27222114-chr6:27239356..27243364,5	K562	blood:

Variant related genes	Relation type
ENSG00000112812	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10946904	0.94[YRI][hapmap]
rs1102568	1.00[CHB][hapmap]
rs11753483	1.00[CHB][hapmap]
rs11965377	1.00[CHB][hapmap]
rs11966985	1.00[CHB][hapmap]
rs11967073	1.00[CHB][hapmap]
rs11969536	1.00[CHB][hapmap]
rs11970095	1.00[CHB][hapmap]
rs11970261	1.00[CHB][hapmap]
rs13219181	0.81[YRI][hapmap]
rs2893912	1.00[CHB][hapmap]
rs34843552	0.88[EUR][1000 genomes]
rs35454259	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35982103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36034627	0.81[AMR][1000 genomes]
rs3800316	1.00[CHB][hapmap]
rs3823427	0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4713074	0.86[YRI][hapmap]
rs5030956	0.87[YRI][hapmap]
rs7744248	1.00[CHB][hapmap]
rs926300	0.81[YRI][hapmap]
rs9468015	0.86[YRI][hapmap]
rs9969094	1.00[CHB][hapmap]

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7759741	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs7759741	BTN3A2	cis	Whole Blood	GTEx
rs7759741	BTN3A2	cis	lung	GTEx
rs7759741	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27237000-27241800	Weak transcription	K562	blood

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