Variant report

Variant	rs7174028
Chromosome Location	chr15:43214759-43214760
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43028031..43031512-chr15:43213394..43215999,3	K562	blood:
2	chr15:43027469..43029531-chr15:43214499..43216212,2	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction
ENSG00000246283	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1037990	0.85[EUR][1000 genomes]
rs10467975	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.85[YRI][hapmap]
rs11070380	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11070382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070386	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11070387	0.83[EUR][1000 genomes]
rs11630595	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11853250	0.93[ASW][hapmap];0.88[CEU][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap]
rs12050596	0.84[EUR][1000 genomes]
rs12441352	0.85[EUR][1000 genomes]
rs12592573	0.93[ASW][hapmap]
rs12594600	1.00[ASW][hapmap]
rs12594765	0.93[ASW][hapmap]
rs12913617	0.83[EUR][1000 genomes]
rs1381856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1462856	0.93[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16957165	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap]
rs16957167	1.00[CEU][hapmap]
rs16957244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957250	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16957264	0.88[CEU][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1972447	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1993813	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2035170	0.83[EUR][1000 genomes]
rs2054389	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2126602	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2412746	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2412747	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2412752	0.83[MEX][hapmap]
rs2682073	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2733224	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28585036	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs2899069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736054	0.93[ASW][hapmap];0.93[GIH][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap]
rs3784265	0.83[EUR][1000 genomes]
rs3803341	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4244590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4338775	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4509988	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4573908	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4923955	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4924701	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4924704	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.84[EUR][1000 genomes]
rs55805543	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60763334	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6416436	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6493065	0.93[ASW][hapmap];0.86[LWK][hapmap]
rs6493071	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493074	0.88[AMR][1000 genomes]
rs6493076	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493077	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66530524	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7162939	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7162959	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7178567	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7181238	0.93[ASW][hapmap];0.84[CHD][hapmap]
rs8027733	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs8031767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8033336	0.93[ASW][hapmap]
rs8037022	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8042481	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9920498	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9920562	0.86[ASW][hapmap];0.84[CHD][hapmap]
rs9920624	0.84[CHD][hapmap]
rs9920904	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9920935	0.86[ASW][hapmap];0.84[CHD][hapmap];0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7174028	TGM5	cis	lymphoblastoid	seeQTL
rs7174028	ELL3	cis	lymphoblastoid	seeQTL
rs7174028	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43213600-43214800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:43214200-43214800	Enhancers	HMEC	breast
3	chr15:43214200-43214800	Enhancers	NHEK	skin
4	chr15:43214400-43219000	Weak transcription	HepG2	liver
5	chr15:43214400-43219200	Weak transcription	Muscle Satellite Cultured Cells	--

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