Variant report

Variant	rs13431105
Chromosome Location	chr2:178434674-178434675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178416436..178419070-chr2:178432303..178434878,2	K562	blood:
2	chr2:178432546..178435257-chr2:178437767..178440394,2	K562	blood:

Variant related genes	Relation type
ENSG00000196659	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10172305	0.81[AFR][1000 genomes]
rs10172355	0.82[EUR][1000 genomes]
rs10180514	0.83[YRI][hapmap]
rs10181259	0.93[CEU][hapmap]
rs10184488	0.82[YRI][hapmap]
rs10190306	0.88[YRI][hapmap]
rs10194452	0.83[CEU][hapmap];0.87[YRI][hapmap]
rs10195917	0.81[EUR][1000 genomes]
rs10497497	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10497504	0.93[CEU][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10754987	0.82[YRI][hapmap]
rs10754988	0.83[YRI][hapmap]
rs10803911	0.83[YRI][hapmap]
rs10803912	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10930788	0.83[YRI][hapmap]
rs10930793	0.83[YRI][hapmap]
rs10930796	0.94[YRI][hapmap];0.96[AFR][1000 genomes]
rs10930797	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930802	0.88[EUR][1000 genomes]
rs11679519	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11679730	1.00[CHB][hapmap]
rs11680632	1.00[CHB][hapmap]
rs11691740	0.81[EUR][1000 genomes]
rs11694988	1.00[CEU][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11695035	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11887886	0.86[EUR][1000 genomes]
rs11889272	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs11889488	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893903	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12468046	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs12478545	0.83[YRI][hapmap]
rs12618150	1.00[CHB][hapmap]
rs12620285	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs12621156	0.82[YRI][hapmap]
rs12693121	0.83[YRI][hapmap]
rs12988366	1.00[CEU][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12997516	0.87[AFR][1000 genomes]
rs13007779	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs13014417	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs13017234	1.00[CHB][hapmap]
rs13017429	1.00[CHB][hapmap]
rs13025391	1.00[CHB][hapmap]
rs13025904	1.00[CHB][hapmap]
rs13026012	1.00[CHB][hapmap]
rs13028757	1.00[CHB][hapmap]
rs13431091	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs1345138	0.93[CEU][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1348851	0.92[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1348852	0.83[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes]
rs1349762	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1358326	1.00[CHB][hapmap]
rs1358327	1.00[CHB][hapmap]
rs1374438	0.93[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1446837	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs1446838	0.83[YRI][hapmap]
rs1446839	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1453369	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs1530965	0.83[YRI][hapmap]
rs1534304	0.85[CEU][hapmap]
rs1544001	1.00[CHB][hapmap]
rs1545363	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs1584806	0.84[AFR][1000 genomes]
rs1838890	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1852530	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1867905	0.93[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1901823	0.83[YRI][hapmap]
rs1997206	1.00[CHB][hapmap]
rs1997207	1.00[CHB][hapmap]
rs2044493	0.84[AFR][1000 genomes]
rs2084967	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs2123643	0.83[YRI][hapmap]
rs2141157	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2167902	0.82[YRI][hapmap]
rs2178017	0.92[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2218575	0.93[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2222712	1.00[CHB][hapmap]
rs2293471	0.85[CEU][hapmap]
rs2293475	0.92[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364850	0.82[AFR][1000 genomes]
rs2364851	0.82[YRI][hapmap]
rs2364852	0.82[YRI][hapmap]
rs2365616	0.97[AFR][1000 genomes]
rs2365617	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2365620	1.00[CHB][hapmap]
rs2695315	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3754989	0.82[YRI][hapmap]
rs3813260	0.83[YRI][hapmap]
rs3952496	0.83[AFR][1000 genomes]
rs4110134	1.00[CHB][hapmap]
rs4144278	0.93[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4243389	0.93[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4341975	1.00[CHB][hapmap]
rs4350784	0.82[YRI][hapmap]
rs4402804	0.82[YRI][hapmap]
rs4893826	0.83[YRI][hapmap]
rs4893827	0.82[YRI][hapmap]
rs4893829	0.92[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4893833	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4893834	0.81[EUR][1000 genomes]
rs4893835	0.81[EUR][1000 genomes]
rs4893933	0.81[AFR][1000 genomes]
rs4893940	0.83[YRI][hapmap]
rs4893942	0.83[YRI][hapmap]
rs4893955	0.83[CEU][hapmap]
rs4893956	0.93[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4893970	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs5025340	1.00[CHB][hapmap]
rs57986285	0.86[EUR][1000 genomes]
rs58160847	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6433672	0.92[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6433674	0.82[YRI][hapmap]
rs6433676	0.83[YRI][hapmap]
rs6433677	0.82[YRI][hapmap]
rs6433685	1.00[CHB][hapmap]
rs6433688	1.00[CHB][hapmap]
rs6710109	0.93[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6715365	0.83[YRI][hapmap]
rs6718769	0.87[EUR][1000 genomes]
rs6721360	1.00[CHB][hapmap]
rs6723014	0.93[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6723031	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6723063	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6725331	0.83[YRI][hapmap]
rs6730406	0.84[CEU][hapmap]
rs6732250	0.82[YRI][hapmap]
rs6734683	0.81[CEU][hapmap]
rs6736145	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739792	0.84[AFR][1000 genomes]
rs6744488	0.82[YRI][hapmap]
rs6752779	0.85[CEU][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes]
rs6754660	0.81[AFR][1000 genomes]
rs6756918	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7560080	1.00[CHB][hapmap]
rs7560514	1.00[CHB][hapmap]
rs7560737	1.00[CHB][hapmap]
rs7570297	0.83[YRI][hapmap]
rs7573345	1.00[CHB][hapmap]
rs7578901	1.00[CHB][hapmap]
rs7582179	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7585952	0.83[YRI][hapmap]
rs7586934	1.00[CHB][hapmap]
rs7588049	0.92[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7589927	0.82[YRI][hapmap]
rs7593744	1.00[CHB][hapmap]
rs7593753	1.00[CHB][hapmap]
rs7594073	0.81[YRI][hapmap]
rs7597640	1.00[CHB][hapmap]
rs7601132	0.83[YRI][hapmap]
rs7604299	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs7604668	0.83[YRI][hapmap]
rs7607073	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9288001	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs9288002	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9288003	0.82[EUR][1000 genomes]
rs935426	0.93[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs941271	1.00[CHB][hapmap]
rs9917193	0.83[AFR][1000 genomes]
rs9917333	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13431105	AGPS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178434000-178434800	Weak transcription	Colon Smooth Muscle	Colon

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