Variant report

Variant	rs73384260
Chromosome Location	chr18:8428104-8428105
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
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]
rs73384266	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8423600-8433600	Weak transcription	Right Atrium	heart
2	chr18:8426200-8428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:8426200-8428600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:8426400-8429000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:8426400-8433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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