Variant report

Variant	rs2603472
Chromosome Location	chr6:73965968-73965969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	6:73927031-73938730..6:73958859-73968658	Hela-S3	cervix:
2	chr6:73964825..73968569-chr6:73969711..73973887,5	K562	blood:
3	6:73958859-73968658..6:74062967-74076046	GM12878	blood:
4	6:73958859-73968658..6:74099986-74112890	GM12878	blood:
5	6:73958859-73968658..6:74078047-74099067	GM12878	blood:

Variant related genes	Relation type
ENSG00000224221	Chromatin interaction
ENSG00000263378	Chromatin interaction
ENSG00000243501	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000229852	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000256980	Chromatin interaction
ENSG00000080007	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10455092	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs10455273	0.82[EUR][1000 genomes]
rs10455274	0.82[EUR][1000 genomes]
rs10943084	0.90[LWK][hapmap];0.82[AFR][1000 genomes]
rs11963438	0.82[AFR][1000 genomes]
rs13194683	0.81[EUR][1000 genomes]
rs13197259	0.93[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[ASN][1000 genomes]
rs13197436	0.94[ASN][1000 genomes]
rs13209676	0.86[ASN][1000 genomes]
rs13211102	0.88[ASN][1000 genomes]
rs13219250	0.82[EUR][1000 genomes]
rs16883538	0.93[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.86[ASN][1000 genomes]
rs16883544	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs16883547	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs16883555	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs16883561	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs1869559	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs2054042	0.94[ASN][1000 genomes]
rs2054043	0.94[ASN][1000 genomes]
rs2124004	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2168113	0.82[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs2603471	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2603473	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2603474	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530192	0.82[EUR][1000 genomes]
rs2984126	0.88[ASN][1000 genomes]
rs2984128	0.86[ASN][1000 genomes]
rs2984129	0.82[EUR][1000 genomes]
rs2984130	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs34602913	0.88[ASN][1000 genomes]
rs34637067	0.82[EUR][1000 genomes]
rs34821383	0.82[EUR][1000 genomes]
rs34826679	0.88[ASN][1000 genomes]
rs34926279	0.88[ASN][1000 genomes]
rs34977156	0.85[ASN][1000 genomes]
rs35227086	0.86[ASN][1000 genomes]
rs35705185	0.88[ASN][1000 genomes]
rs35806061	0.94[ASN][1000 genomes]
rs35892768	0.86[ASN][1000 genomes]
rs36044937	0.86[ASN][1000 genomes]
rs36049164	0.86[ASN][1000 genomes]
rs36114303	0.83[ASN][1000 genomes]
rs3734511	0.94[ASN][1000 genomes]
rs471270	0.82[EUR][1000 genomes]
rs471938	0.82[EUR][1000 genomes]
rs555779	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs573535	0.82[EUR][1000 genomes]
rs576229	0.88[CEU][hapmap]
rs579736	0.83[CEU][hapmap]
rs62438239	0.82[EUR][1000 genomes]
rs6915004	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6915288	0.88[ASN][1000 genomes]
rs71573587	0.88[ASN][1000 genomes]
rs71573588	0.88[ASN][1000 genomes]
rs71573589	0.86[ASN][1000 genomes]
rs71573590	0.86[ASN][1000 genomes]
rs71573591	0.85[ASN][1000 genomes]
rs7752970	0.85[ASN][1000 genomes]
rs7753960	0.84[CHD][hapmap]
rs7758047	0.82[EUR][1000 genomes]
rs7759043	0.82[EUR][1000 genomes]
rs7759315	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs947753	1.00[CHB][hapmap];0.86[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1022151	chr6:73876795-73996828	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv538304	chr6:73876795-73996828	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1030079	chr6:73920050-73984084	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv886157	chr6:73922561-73969722	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2603472	EIF3EP1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73934000-73972400	Weak transcription	Ovary	ovary
2	chr6:73950400-73972200	Weak transcription	Right Atrium	heart
3	chr6:73957800-73971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:73958200-73972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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