Variant report

Variant	rs16961994
Chromosome Location	chr18:29062236-29062237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29062053..29064443-chr18:29081495..29083582,3	K562	blood:
2	chr18:29058662..29063697-chr18:29063884..29065891,5	K562	blood:
3	chr18:29062010..29063666-chr18:29066941..29068808,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs67423158	0.84[EUR][1000 genomes]
rs7240573	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7240789	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs7241611	1.00[CEU][hapmap];1.00[TSI][hapmap];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]
rs72925163	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:4 , 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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29036000-29064600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:29036800-29062400	Strong transcription	HMEC	breast
3	chr18:29059000-29066600	Weak transcription	Esophagus	oesophagus
4	chr18:29062000-29063000	Enhancers	NHEK	skin
5	chr18:29062000-29063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:29062000-29064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:29062000-29066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:29062200-29064000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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