Variant report

Variant	rs73384296
Chromosome Location	chr18:8439430-8439431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16953398	1.00[EUR][1000 genomes]
rs16953436	1.00[EUR][1000 genomes]
rs2155754	1.00[EUR][1000 genomes]
rs56833614	1.00[EUR][1000 genomes]
rs59280133	1.00[EUR][1000 genomes]
rs641358	1.00[EUR][1000 genomes]
rs6506581	1.00[EUR][1000 genomes]
rs7231964	1.00[EUR][1000 genomes]
rs7232155	1.00[EUR][1000 genomes]
rs73384215	1.00[EUR][1000 genomes]
rs73384258	1.00[EUR][1000 genomes]
rs73384260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939447	1.00[EUR][1000 genomes]
rs9946242	1.00[EUR][1000 genomes]
rs9948640	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv458022	chr18:8417484-8471457	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv576429	chr18:8417484-8471457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv962957	chr18:8430747-8441037	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8439200-8439800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8439200-8439800	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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