Variant report

Variant	rs690336
Chromosome Location	chr18:8854219-8854220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs662429	0.87[CEU][hapmap];0.99[EUR][1000 genomes]
rs689786	0.98[ASN][1000 genomes]
rs690034	0.90[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

No data

Chromatin state (count:17 , 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	chr18:8852000-8856200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:8853800-8855400	Enhancers	NHLF	lung
5	chr18:8854000-8855000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8854000-8855200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:8854000-8856600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:8854200-8854400	Enhancers	Colon Smooth Muscle	Colon
9	chr18:8854200-8854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:8854200-8854600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:8854200-8854600	Enhancers	Fetal Stomach	stomach
12	chr18:8854200-8854800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:8854200-8854800	Enhancers	Fetal Muscle Leg	muscle
14	chr18:8854200-8854800	Enhancers	A549	lung
15	chr18:8854200-8855200	Enhancers	NHDF-Ad	bronchial
16	chr18:8854200-8855400	Enhancers	Fetal Kidney	kidney
17	chr18:8854200-8856200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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