Variant report

Variant	rs2807286
Chromosome Location	chr6:131812565-131812566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs11154638	0.90[ASN][1000 genomes]
rs1206684	1.00[YRI][hapmap]
rs12190468	0.93[ASN][1000 genomes]
rs12196690	0.93[ASN][1000 genomes]
rs12198874	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12201347	0.91[ASN][1000 genomes]
rs1334353	0.91[ASN][1000 genomes]
rs1572211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657364	1.00[YRI][hapmap]
rs2246167	0.91[ASN][1000 genomes]
rs2246168	0.91[ASN][1000 genomes]
rs2246281	0.91[ASN][1000 genomes]
rs2246372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249537	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249691	0.94[ASN][1000 genomes]
rs2249821	0.94[ASN][1000 genomes]
rs2250409	0.88[ASN][1000 genomes]
rs2327152	0.88[ASN][1000 genomes]
rs2446214	0.94[ASN][1000 genomes]
rs2446216	0.94[ASN][1000 genomes]
rs2446217	0.94[ASN][1000 genomes]
rs2446218	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2446223	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483802	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2491205	0.94[ASN][1000 genomes]
rs2491207	0.94[ASN][1000 genomes]
rs2491208	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2491209	1.00[YRI][hapmap]
rs2608900	0.85[ASN][1000 genomes]
rs2608901	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608907	0.82[ASN][1000 genomes]
rs2608923	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2608924	0.88[ASN][1000 genomes]
rs2608925	0.88[ASN][1000 genomes]
rs2608929	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608931	0.88[ASN][1000 genomes]
rs2608932	0.88[ASN][1000 genomes]
rs2608933	0.88[ASN][1000 genomes]
rs2608936	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2608944	0.87[ASN][1000 genomes]
rs2608945	0.88[ASN][1000 genomes]
rs2608947	0.91[ASN][1000 genomes]
rs2608948	0.91[ASN][1000 genomes]
rs2608949	0.90[ASN][1000 genomes]
rs2608950	0.90[ASN][1000 genomes]
rs2608956	0.94[ASN][1000 genomes]
rs2608957	0.94[ASN][1000 genomes]
rs2608958	0.94[ASN][1000 genomes]
rs2608959	0.94[ASN][1000 genomes]
rs2608960	0.94[ASN][1000 genomes]
rs2608961	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2608962	0.94[ASN][1000 genomes]
rs2608963	0.94[ASN][1000 genomes]
rs2608964	0.94[ASN][1000 genomes]
rs2608965	0.94[ASN][1000 genomes]
rs2608966	0.94[ASN][1000 genomes]
rs2608967	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608968	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608974	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608975	0.82[CHB][hapmap]
rs2749927	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2749928	0.82[ASN][1000 genomes]
rs2749936	0.88[ASN][1000 genomes]
rs2749937	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781622	0.91[ASN][1000 genomes]
rs2781623	0.91[ASN][1000 genomes]
rs2781624	0.91[ASN][1000 genomes]
rs2781625	0.91[ASN][1000 genomes]
rs2781626	0.91[ASN][1000 genomes]
rs2781627	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781628	0.85[ASN][1000 genomes]
rs2781629	0.89[ASN][1000 genomes]
rs2781630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781631	0.88[ASN][1000 genomes]
rs2781632	0.88[ASN][1000 genomes]
rs2781633	0.87[ASN][1000 genomes]
rs2781634	0.88[ASN][1000 genomes]
rs2781636	0.87[ASN][1000 genomes]
rs2781637	0.85[ASN][1000 genomes]
rs2781638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781639	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2781640	0.85[ASN][1000 genomes]
rs2781643	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2781644	0.91[ASN][1000 genomes]
rs2781648	0.91[ASN][1000 genomes]
rs2781653	0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2807275	0.88[ASN][1000 genomes]
rs2807276	0.88[ASN][1000 genomes]
rs2807277	0.94[ASN][1000 genomes]
rs2807279	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2807280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807288	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807289	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807291	0.91[ASN][1000 genomes]
rs2807292	0.91[ASN][1000 genomes]
rs2807293	0.91[ASN][1000 genomes]
rs2807294	0.91[ASN][1000 genomes]
rs2807295	0.91[ASN][1000 genomes]
rs2807296	0.91[ASN][1000 genomes]
rs2807298	0.87[ASN][1000 genomes]
rs36158725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850240	0.88[ASN][1000 genomes]
rs3904568	0.91[ASN][1000 genomes]
rs4053133	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4053139	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243503	0.91[ASN][1000 genomes]
rs4285347	0.91[ASN][1000 genomes]
rs4294029	0.94[ASN][1000 genomes]
rs4492213	0.81[ASN][1000 genomes]
rs4565332	0.94[ASN][1000 genomes]
rs4566904	0.94[ASN][1000 genomes]
rs4897522	0.91[ASN][1000 genomes]
rs4897526	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4897528	0.83[ASN][1000 genomes]
rs6569744	0.94[ASN][1000 genomes]
rs6569745	0.94[ASN][1000 genomes]
rs6569746	0.94[ASN][1000 genomes]
rs6912764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6918117	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6927780	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927940	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7743698	0.87[ASN][1000 genomes]
rs7743727	0.94[ASN][1000 genomes]
rs7744007	0.94[ASN][1000 genomes]
rs7744116	0.94[ASN][1000 genomes]
rs9321298	0.87[ASN][1000 genomes]
rs9321301	0.88[ASN][1000 genomes]
rs9375816	0.87[ASN][1000 genomes]
rs9398987	0.91[ASN][1000 genomes]
rs9402335	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9402336	0.83[ASN][1000 genomes]
rs9483293	0.89[ASN][1000 genomes]
rs9483294	0.87[ASN][1000 genomes]
rs9493003	0.86[ASN][1000 genomes]
rs9493004	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9784795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv9745	chr6:131809780-131816116	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2807286	EPB41L2	cis	parietal	SCAN
rs2807286	SLC2A12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131811400-131813400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:131811600-131813600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:131812200-131812800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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