Variant report

Variant	rs595612
Chromosome Location	chr18:8853618-8853619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10502384	0.91[AFR][1000 genomes]
rs12605622	0.85[AFR][1000 genomes]
rs642510	0.89[AFR][1000 genomes]
rs646828	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs650038	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs670578	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689956	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs690076	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs690206	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs690237	0.83[AFR][1000 genomes]
rs690490	0.80[AFR][1000 genomes]
rs690517	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690518	0.88[ASN][1000 genomes]
rs690570	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8845200-8856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8845600-8856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:8849000-8854200	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:8850200-8853800	Weak transcription	NHLF	lung
5	chr18:8850200-8854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8850200-8854200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:8850200-8854200	Weak transcription	NHDF-Ad	bronchial
8	chr18:8852000-8854200	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:8852000-8856200	Weak transcription	H1 Derived Neuronal Progenitor Cultured 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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