Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1347339	1.00[YRI][hapmap]
rs16950355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16950594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16950662	0.83[AFR][1000 genomes]
rs16950719	0.91[AFR][1000 genomes]
rs16950735	0.91[AFR][1000 genomes]
rs16950736	0.91[AFR][1000 genomes]
rs16950741	0.91[AFR][1000 genomes]
rs16950742	0.91[AFR][1000 genomes]
rs16950744	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16950754	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16950767	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16950774	0.91[AFR][1000 genomes]
rs16950777	0.91[AFR][1000 genomes]
rs56014831	0.91[AFR][1000 genomes]
rs7234151	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7239748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906498	0.83[AFR][1000 genomes]
rs72908518	0.91[AFR][1000 genomes]
rs72908529	0.91[AFR][1000 genomes]
rs72908537	0.91[AFR][1000 genomes]
rs8086145	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16950322	HBD	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44757800-44762800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr18:44761800-44762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:44762000-44769400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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