Variant report

Variant	rs2054388
Chromosome Location	chr15:43224458-43224459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10220713	1.00[EUR][1000 genomes]
rs10220718	1.00[EUR][1000 genomes]
rs10220726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220875	1.00[EUR][1000 genomes]
rs11070384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317628	1.00[EUR][1000 genomes]
rs13379871	1.00[EUR][1000 genomes]
rs13380157	1.00[EUR][1000 genomes]
rs13380212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380301	1.00[EUR][1000 genomes]
rs16957125	1.00[EUR][1000 genomes]
rs16957138	1.00[EUR][1000 genomes]
rs16957164	1.00[EUR][1000 genomes]
rs16957185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957187	1.00[EUR][1000 genomes]
rs16957201	1.00[EUR][1000 genomes]
rs16957292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306127	1.00[ASN][1000 genomes]
rs2306128	1.00[ASN][1000 genomes]
rs28535059	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34436896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56894749	1.00[EUR][1000 genomes]
rs57880396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59276064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59589598	1.00[AMR][1000 genomes]
rs60789298	1.00[EUR][1000 genomes]
rs60832391	1.00[EUR][1000 genomes]
rs60881935	1.00[EUR][1000 genomes]
rs61682243	1.00[EUR][1000 genomes]
rs7164041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165249	1.00[EUR][1000 genomes]
rs7174661	1.00[EUR][1000 genomes]
rs7175062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495345	1.00[ASN][1000 genomes]
rs8031111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032994	1.00[EUR][1000 genomes]
rs9806161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43214800-43226400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:43222400-43236600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:43223600-43227400	Weak transcription	HepG2	liver
4	chr15:43223600-43238400	Weak transcription	Ovary	ovary

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