Variant report

Variant	rs72925163
Chromosome Location	chr18:29054100-29054101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16961994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67423158	0.84[EUR][1000 genomes]
rs7240573	0.84[EUR][1000 genomes]
rs7240789	0.84[EUR][1000 genomes]
rs7241611	0.84[EUR][1000 genomes]
rs72922886	1.00[AMR][1000 genomes]
rs72922892	1.00[AMR][1000 genomes]
rs72925118	1.00[AMR][1000 genomes]
rs72925121	1.00[AMR][1000 genomes]
rs72925127	0.84[EUR][1000 genomes]
rs72925129	0.84[EUR][1000 genomes]
rs72925137	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72925140	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72925152	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72925153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72925156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929966	0.83[AMR][1000 genomes]
rs72929968	0.83[AMR][1000 genomes]
rs72931998	0.83[AMR][1000 genomes]
rs72932001	0.83[AMR][1000 genomes]
rs72933906	0.83[AMR][1000 genomes]
rs72933939	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv524890	chr18:28967410-29056465	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv458045	chr18:28969044-29056465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv576632	chr18:28969044-29056465	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2751776	chr18:28970147-29057719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29036000-29064600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:29036600-29061200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:29036800-29059600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:29036800-29060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:29036800-29060400	Strong transcription	NHEK	skin
6	chr18:29036800-29062400	Strong transcription	HMEC	breast
7	chr18:29053200-29059000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:29053600-29055200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr18:29054000-29056200	Strong transcription	Esophagus	oesophagus

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