Variant report

Variant	rs1108112
Chromosome Location	chr18:8848947-8848948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17408774	1.00[AFR][1000 genomes]
rs17486397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4133048	1.00[AFR][1000 genomes]
rs4797335	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4797336	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4797337	0.82[EUR][1000 genomes]
rs4797338	1.00[AFR][1000 genomes]
rs4798694	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4798695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4798698	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4798702	1.00[AFR][1000 genomes]
rs4798712	1.00[AFR][1000 genomes]
rs4798715	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108112	LOC285733	trans	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8843200-8849800	Weak transcription	NHLF	lung
2	chr18:8845200-8849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8845200-8856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:8845600-8856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:8845800-8849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:8846600-8850200	Enhancers	NHDF-Ad	bronchial
7	chr18:8847200-8849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:8847200-8849000	Enhancers	Stomach Smooth Muscle	stomach
9	chr18:8847200-8849200	Enhancers	Rectal Smooth Muscle	rectum
10	chr18:8847200-8849200	Enhancers	Osteobl	bone
11	chr18:8847400-8849200	Enhancers	Colon Smooth Muscle	Colon
12	chr18:8848000-8849000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:8848200-8849000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:8848800-8849000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:8848800-8849000	Enhancers	Fetal Muscle Leg	muscle

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Input of quick search could be:

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

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