Variant report

Variant	rs7372342
Chromosome Location	chr3:50984782-50984783
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs12485331	0.84[EUR][1000 genomes]
rs12485524	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12485754	0.84[EUR][1000 genomes]
rs12486828	0.88[ASN][1000 genomes]
rs12487496	0.89[EUR][1000 genomes]
rs12487821	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs12488700	0.91[YRI][hapmap]
rs12488831	0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12488948	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12490026	0.89[EUR][1000 genomes]
rs12490502	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12490519	0.88[ASN][1000 genomes]
rs12491206	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12491402	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12491836	0.89[EUR][1000 genomes]
rs12492367	0.88[ASN][1000 genomes]
rs12492615	0.89[EUR][1000 genomes]
rs12492690	0.89[EUR][1000 genomes]
rs12492850	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12493359	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12494214	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12494708	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12494776	0.88[ASN][1000 genomes]
rs12495399	0.80[ASN][1000 genomes]
rs12496601	0.86[ASN][1000 genomes]
rs12496621	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12497067	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17051468	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2125368	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2262847	0.91[ASN][1000 genomes]
rs2355707	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4073739	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4078296	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130473	0.89[EUR][1000 genomes]
rs4323036	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4346580	0.89[EUR][1000 genomes]
rs4688695	0.86[ASN][1000 genomes]
rs4688696	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs4688697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688752	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4927961	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs4927975	1.00[YRI][hapmap]
rs56844171	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57406588	0.89[EUR][1000 genomes]
rs58356214	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58704403	0.83[AFR][1000 genomes]
rs58720544	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59682667	0.89[EUR][1000 genomes]
rs59834534	0.89[EUR][1000 genomes]
rs60184902	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60461297	0.89[EUR][1000 genomes]
rs60552386	0.82[ASN][1000 genomes]
rs60602904	0.89[ASN][1000 genomes]
rs60882641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60917457	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61627377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61676409	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6446239	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72937251	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72937253	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72937262	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72937265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72937269	0.83[AFR][1000 genomes]
rs72937299	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72937300	0.83[AFR][1000 genomes]
rs72939205	0.83[AFR][1000 genomes]
rs72939228	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941919	0.89[EUR][1000 genomes]
rs72942530	0.85[ASN][1000 genomes]
rs72942567	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72943130	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943137	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943166	0.89[EUR][1000 genomes]
rs72948197	0.89[EUR][1000 genomes]
rs72948200	0.89[EUR][1000 genomes]
rs72953143	0.89[EUR][1000 genomes]
rs72953162	0.89[EUR][1000 genomes]
rs7427526	0.95[ASN][1000 genomes]
rs7427615	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1004881	chr3:50900793-51032918	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536568	chr3:50900793-51032918	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1803890	chr3:50966037-50987194	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7372342	HEMK1	cis	multi-tissue	Pritchard
rs7372342	HEMK	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50974000-50991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:50983600-50987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:50984400-50987800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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