Variant report

Variant	rs1381344
Chromosome Location	chr18:39870310-39870311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10502782	0.84[ASN][1000 genomes]
rs10502783	0.84[ASN][1000 genomes]
rs11082269	0.84[ASN][1000 genomes]
rs11874061	0.84[ASN][1000 genomes]
rs12604128	0.84[ASN][1000 genomes]
rs12967992	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1381345	0.84[ASN][1000 genomes]
rs1461704	0.83[ASN][1000 genomes]
rs3763494	0.80[JPT][hapmap]
rs7235200	0.84[ASN][1000 genomes]
rs7240321	0.84[ASN][1000 genomes]
rs8089080	0.83[AFR][1000 genomes]
rs8089535	0.84[ASN][1000 genomes]
rs9946713	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9955570	0.82[ASN][1000 genomes]
rs9967444	0.84[ASN][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv1059553	chr18:39828781-39872695	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39869400-39871000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:39869400-39871400	Enhancers	Fetal Heart	heart
3	chr18:39869400-39871400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr18:39869400-39871600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:39869600-39870800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:39869600-39871200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr18:39870200-39871000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr18:39870200-39871200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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