Variant report

Variant	rs6656814
Chromosome Location	chr1:171740946-171740947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171738793..171741623-chr1:171744714..171746793,2	K562	blood:
2	chr1:171738907..171740950-chr1:171747822..171750244,2	MCF-7	breast:
3	chr1:171731110..171733930-chr1:171739519..171741268,2	MCF-7	breast:
4	chr1:171709564..171713750-chr1:171736602..171743117,7	K562	blood:
5	chr1:171738793..171742009-chr1:171745293..171748243,3	K562	blood:

Variant related genes	Relation type
ENSG00000117533	Chromatin interaction
ENSG00000236741	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10158220	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10158235	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10158943	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10159080	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10489253	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10753190	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753195	0.90[CHD][hapmap]
rs10753196	0.90[CHD][hapmap]
rs10753197	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10753198	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1079820	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798637	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798657	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798658	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798661	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798679	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10913633	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913639	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913743	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913799	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10913803	0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11579138	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11580187	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11585645	0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11588649	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11589200	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11589823	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11590059	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11590829	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11807195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022693	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022753	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12031686	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12035109	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036580	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063769	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12562644	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12723938	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12735285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12754084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12755791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555101	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555102	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17597528	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17597542	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2206541	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2206542	0.81[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2232804	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2232809	0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs2232811	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294719	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294720	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294721	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294722	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2421912	0.85[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421913	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34219132	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35738870	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4292987	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55739261	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59592673	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425416	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425417	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425422	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425428	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425435	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425436	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425437	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425440	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425441	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6657803	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6658116	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6658730	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6658980	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6659621	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6665727	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6668165	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6674810	0.81[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675011	0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6678230	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6685030	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6689108	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6689213	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6690544	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6695736	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6698366	0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6698467	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6698892	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6700184	0.84[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6700384	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6702424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732304	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732305	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517546	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7517555	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520688	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs752514	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7525313	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7537173	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7537770	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7537931	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7537935	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539505	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7541128	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7542691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7545100	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7549347	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7550603	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7552369	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7556602	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764179	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764180	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs909959	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6656814	METTL13	cis	parietal	SCAN
rs6656814	DNM3	cis	cerebellum	SCAN
rs6656814	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171738600-171741600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:171738600-171741600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:171739400-171744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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