Variant report

Variant	rs6742314
Chromosome Location	chr2:210633322-210633323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:210633309-210633647	A549	lung:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486
2	CEBPB	chr2:210633314-210633796	Hela-S3	cervix:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486
3	CEBPB	chr2:210633318-210633649	IMR90	lung:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486
4	CEBPB	chr2:210633293-210633655	HepG2	liver:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486
5	CEBPB	chr2:210633259-210633713	A549	lung:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486
6	CEBPB	chr2:210633307-210633649	K562	blood:	n/a	chr2:210633474-210633487 chr2:210633486-210633497 chr2:210633484-210633497 chr2:210633453-210633464 chr2:210633474-210633485 chr2:210633475-210633486

Variant related genes	Relation type
UNC80	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10182553	0.89[ASN][1000 genomes]
rs10183590	0.81[EUR][1000 genomes]
rs10183604	0.81[EUR][1000 genomes]
rs10206817	0.86[MEX][hapmap]
rs10490021	0.81[EUR][1000 genomes]
rs10490022	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10804176	0.85[EUR][1000 genomes]
rs10932305	0.85[EUR][1000 genomes]
rs10932306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674672	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11674950	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677476	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11677489	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11677975	0.81[EUR][1000 genomes]
rs11678044	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11679862	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11680007	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11680964	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682692	0.81[EUR][1000 genomes]
rs11687043	0.88[EUR][1000 genomes]
rs11689771	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11692345	0.88[EUR][1000 genomes]
rs11692608	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11693202	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11884376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11887161	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11898077	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11900602	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12105654	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12105660	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613705	0.86[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs12614031	0.81[EUR][1000 genomes]
rs12615516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616589	0.81[JPT][hapmap]
rs12619203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619253	0.81[EUR][1000 genomes]
rs12619409	0.85[EUR][1000 genomes]
rs12622305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1476876	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1476877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1509468	0.81[JPT][hapmap]
rs1509469	0.81[JPT][hapmap]
rs16843354	0.88[MEX][hapmap]
rs16843360	0.88[MEX][hapmap]
rs16843382	0.86[MEX][hapmap]
rs16843421	0.81[EUR][1000 genomes]
rs16843453	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs16843515	0.81[EUR][1000 genomes]
rs16843544	0.85[EUR][1000 genomes]
rs16843614	0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs16843618	0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs16843626	0.85[EUR][1000 genomes]
rs2098204	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2215624	0.88[EUR][1000 genomes]
rs2215625	0.88[EUR][1000 genomes]
rs2239553	0.85[EUR][1000 genomes]
rs2239672	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs2268042	0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs2271252	0.88[MEX][hapmap]
rs2284360	0.85[EUR][1000 genomes]
rs2286850	0.88[MEX][hapmap]
rs2300154	0.85[EUR][1000 genomes]
rs2710477	0.92[JPT][hapmap]
rs2710482	0.88[MEX][hapmap]
rs35337581	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35872449	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738935	0.88[MEX][hapmap]
rs3754597	0.85[EUR][1000 genomes]
rs3768810	0.81[EUR][1000 genomes]
rs3768813	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs3768814	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs3768826	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs3768833	0.88[MEX][hapmap]
rs3768834	0.88[MEX][hapmap]
rs3768835	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs3820746	0.82[EUR][1000 genomes]
rs3820748	0.88[MEX][hapmap]
rs3886931	0.81[EUR][1000 genomes]
rs4672559	0.85[EUR][1000 genomes]
rs4673486	0.88[MEX][hapmap]
rs56825045	0.85[EUR][1000 genomes]
rs57305145	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57542539	0.85[EUR][1000 genomes]
rs57637604	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57853945	0.85[EUR][1000 genomes]
rs57990979	0.89[EUR][1000 genomes]
rs58248939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58295121	0.85[EUR][1000 genomes]
rs58525719	0.85[EUR][1000 genomes]
rs58779755	0.85[EUR][1000 genomes]
rs59155421	0.81[EUR][1000 genomes]
rs59555743	0.85[EUR][1000 genomes]
rs60161291	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60640585	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61333809	0.85[EUR][1000 genomes]
rs61356588	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61420319	0.85[EUR][1000 genomes]
rs6709925	0.88[MEX][hapmap]
rs6716831	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6720659	0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs6746029	0.88[MEX][hapmap]
rs723683	0.88[MEX][hapmap]
rs73074733	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73074750	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074751	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074763	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73074778	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73074779	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73074784	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73074787	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73074791	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73074801	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73076704	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73076710	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs741006	0.86[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs741007	0.88[MEX][hapmap]
rs7564369	0.86[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7569393	0.85[EUR][1000 genomes]
rs7594601	0.86[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs7595017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975551	0.86[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs975552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6742314	LANCL1	cis	lymphoblastoid	seeQTL
rs6742314	SLC44A2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210632600-210636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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