Variant report

Variant	rs7450186
Chromosome Location	chr6:131826942-131826943
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11154638	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12201347	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1334353	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246167	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246168	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246281	0.82[EUR][1000 genomes]
rs2608900	0.83[EUR][1000 genomes]
rs2608924	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2608925	0.84[EUR][1000 genomes]
rs2608931	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2608932	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2608933	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2608947	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2608948	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2608949	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2608950	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2781622	0.85[EUR][1000 genomes]
rs2781623	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2781624	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2781625	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2781626	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2781628	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2781631	0.84[EUR][1000 genomes]
rs2781632	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2781633	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2781634	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2781636	0.84[EUR][1000 genomes]
rs2781637	0.83[EUR][1000 genomes]
rs2781640	0.83[EUR][1000 genomes]
rs2781644	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2781648	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2781653	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2807291	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807292	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807293	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807294	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807295	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807296	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807298	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3850240	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3904568	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4243503	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4318898	0.94[ASN][1000 genomes]
rs4355631	0.92[ASN][1000 genomes]
rs4492213	0.88[ASN][1000 genomes]
rs4897522	0.82[EUR][1000 genomes]
rs4897528	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9321298	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9321301	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9375816	0.82[EUR][1000 genomes]
rs9398987	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9402336	0.84[EUR][1000 genomes]
rs9483293	0.85[EUR][1000 genomes]
rs9483294	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9493003	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv886667	chr6:131807510-131876943	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7450186	ARG1	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131819800-131830800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:131824800-131828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:131824800-131830000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:131825400-131830600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:131825400-131830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:131826600-131830600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:131826800-131830800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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