Variant report

Variant	rs2608933
Chromosome Location	chr6:131830996-131830997
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs11154638	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12190468	0.81[ASN][1000 genomes]
rs12196690	0.81[ASN][1000 genomes]
rs12201347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1334353	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1572211	0.88[ASN][1000 genomes]
rs2246167	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246168	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246281	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246372	0.88[ASN][1000 genomes]
rs2249537	0.87[ASN][1000 genomes]
rs2249691	0.82[ASN][1000 genomes]
rs2249821	0.82[ASN][1000 genomes]
rs2446213	0.81[EUR][1000 genomes]
rs2446214	0.82[ASN][1000 genomes]
rs2446216	0.82[ASN][1000 genomes]
rs2446217	0.82[ASN][1000 genomes]
rs2446218	0.88[ASN][1000 genomes]
rs2446221	0.84[ASN][1000 genomes]
rs2446223	0.86[ASN][1000 genomes]
rs2483802	0.88[ASN][1000 genomes]
rs2491205	0.82[ASN][1000 genomes]
rs2491207	0.82[ASN][1000 genomes]
rs2491208	0.88[ASN][1000 genomes]
rs2608900	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608901	0.91[ASN][1000 genomes]
rs2608907	0.82[ASN][1000 genomes]
rs2608909	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2608910	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2608912	0.84[EUR][1000 genomes]
rs2608913	0.84[EUR][1000 genomes]
rs2608914	0.84[EUR][1000 genomes]
rs2608915	0.80[EUR][1000 genomes]
rs2608916	0.84[EUR][1000 genomes]
rs2608917	0.84[EUR][1000 genomes]
rs2608918	0.84[EUR][1000 genomes]
rs2608919	0.83[EUR][1000 genomes]
rs2608920	0.82[EUR][1000 genomes]
rs2608921	0.82[EUR][1000 genomes]
rs2608923	0.94[ASN][1000 genomes]
rs2608924	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608925	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608929	0.94[ASN][1000 genomes]
rs2608931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608936	0.88[ASN][1000 genomes]
rs2608947	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608948	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2608949	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608950	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608956	0.82[ASN][1000 genomes]
rs2608957	0.82[ASN][1000 genomes]
rs2608958	0.82[ASN][1000 genomes]
rs2608959	0.82[ASN][1000 genomes]
rs2608960	0.82[ASN][1000 genomes]
rs2608961	0.82[ASN][1000 genomes]
rs2608962	0.82[ASN][1000 genomes]
rs2608963	0.82[ASN][1000 genomes]
rs2608964	0.82[ASN][1000 genomes]
rs2608965	0.82[ASN][1000 genomes]
rs2608966	0.82[ASN][1000 genomes]
rs2608967	0.86[ASN][1000 genomes]
rs2608968	0.86[ASN][1000 genomes]
rs2608969	0.88[ASN][1000 genomes]
rs2608970	0.88[ASN][1000 genomes]
rs2608971	0.88[ASN][1000 genomes]
rs2608972	0.88[ASN][1000 genomes]
rs2608973	0.88[ASN][1000 genomes]
rs2608974	0.88[ASN][1000 genomes]
rs2608976	0.81[EUR][1000 genomes]
rs2608977	0.81[EUR][1000 genomes]
rs2608981	0.81[EUR][1000 genomes]
rs2608982	0.81[EUR][1000 genomes]
rs2749927	0.88[ASN][1000 genomes]
rs2749928	0.83[ASN][1000 genomes]
rs2749929	0.87[ASN][1000 genomes]
rs2749933	0.81[EUR][1000 genomes]
rs2749936	0.86[ASN][1000 genomes]
rs2749937	0.87[ASN][1000 genomes]
rs2781622	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781623	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781624	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781625	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781626	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781627	0.88[ASN][1000 genomes]
rs2781628	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2781629	0.86[ASN][1000 genomes]
rs2781630	0.88[ASN][1000 genomes]
rs2781631	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781634	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781636	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781637	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2781638	0.88[ASN][1000 genomes]
rs2781639	0.91[ASN][1000 genomes]
rs2781640	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2781643	0.87[ASN][1000 genomes]
rs2781644	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781646	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2781647	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2781648	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781649	0.81[EUR][1000 genomes]
rs2781650	0.81[EUR][1000 genomes]
rs2781651	0.81[EUR][1000 genomes]
rs2781652	0.81[EUR][1000 genomes]
rs2781653	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807277	0.82[ASN][1000 genomes]
rs2807279	0.86[ASN][1000 genomes]
rs2807280	0.88[ASN][1000 genomes]
rs2807281	0.88[ASN][1000 genomes]
rs2807282	0.88[ASN][1000 genomes]
rs2807283	0.88[ASN][1000 genomes]
rs2807284	0.88[ASN][1000 genomes]
rs2807286	0.88[ASN][1000 genomes]
rs2807287	0.88[ASN][1000 genomes]
rs2807288	0.88[ASN][1000 genomes]
rs2807289	0.88[ASN][1000 genomes]
rs2807290	0.88[ASN][1000 genomes]
rs2807291	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807292	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807293	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807294	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807295	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807296	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807298	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28612296	0.81[EUR][1000 genomes]
rs36158725	0.88[ASN][1000 genomes]
rs3850240	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904568	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4053133	0.88[ASN][1000 genomes]
rs4053139	0.88[ASN][1000 genomes]
rs4243503	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4285347	0.81[ASN][1000 genomes]
rs4294029	0.82[ASN][1000 genomes]
rs4492213	0.83[ASN][1000 genomes]
rs4565332	0.82[ASN][1000 genomes]
rs4566904	0.82[ASN][1000 genomes]
rs4897522	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897526	0.81[ASN][1000 genomes]
rs4897528	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569744	0.82[ASN][1000 genomes]
rs6569745	0.82[ASN][1000 genomes]
rs6569746	0.82[ASN][1000 genomes]
rs6912764	0.88[ASN][1000 genomes]
rs6918117	0.90[ASN][1000 genomes]
rs6927780	0.88[ASN][1000 genomes]
rs6927940	0.88[ASN][1000 genomes]
rs7450186	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7743698	0.88[ASN][1000 genomes]
rs7743727	0.82[ASN][1000 genomes]
rs7744007	0.82[ASN][1000 genomes]
rs7744116	0.82[ASN][1000 genomes]
rs9321298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321301	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375816	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398987	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9402335	0.84[ASN][1000 genomes]
rs9402336	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9483293	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9483294	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9493003	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9493004	0.91[ASN][1000 genomes]
rs9784795	0.88[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
rs2608933	ARG1	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131828000-131831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:131829600-131831400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:131830000-131833200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:131830400-131832400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:131830600-131831400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:131830600-131832200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:131830600-131832200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:131830600-131833800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:131830800-131831800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:131830800-131832000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:131830800-131832200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:131830800-131832200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:131830800-131832200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:131830800-131832400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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