Variant report

Variant	rs1262043
Chromosome Location	chr18:11835931-11835932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1249625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1272340	1.00[AMR][1000 genomes]
rs1364630	1.00[AMR][1000 genomes]
rs1364634	1.00[AMR][1000 genomes]
rs1647542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1647552	1.00[AMR][1000 genomes]
rs1863121	1.00[AMR][1000 genomes]
rs6505678	1.00[AMR][1000 genomes]
rs7230614	1.00[AMR][1000 genomes]
rs7238570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8088462	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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr18:11822800-11836600	Weak transcription	Hela-S3	cervix
2	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:11830800-11839600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:11830800-11849000	Weak transcription	A549	lung
5	chr18:11831000-11836800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:11831800-11842600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:11835200-11840000	Weak transcription	Fetal Heart	heart
8	chr18:11835600-11836000	Enhancers	HepG2	liver

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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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