Variant report

Variant	rs3923790
Chromosome Location	chr8:103469290-103469291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1316912	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3923789	0.91[EUR][1000 genomes]
rs4269511	0.85[CHB][hapmap]
rs4621773	0.80[AFR][1000 genomes]
rs55960246	0.83[AFR][1000 genomes]
rs56223460	0.91[EUR][1000 genomes]
rs60866539	0.89[EUR][1000 genomes]
rs62523144	0.90[EUR][1000 genomes]
rs62523151	0.86[ASN][1000 genomes]
rs62523155	0.83[ASN][1000 genomes]
rs62524777	0.81[ASN][1000 genomes]
rs7014780	0.86[ASN][1000 genomes]
rs72606691	0.86[ASN][1000 genomes]
rs7845636	0.85[AFR][1000 genomes]
rs9693239	0.93[YRI][hapmap];0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3368938	chr8:103449847-103469656	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv3449491	chr8:103469230-103469398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103468600-103469600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:103468600-103471800	Weak transcription	Hela-S3	cervix
3	chr8:103468800-103469400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:103468800-103469400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:103468800-103469400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103468800-103469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:103468800-103469400	Enhancers	Stomach Smooth Muscle	stomach
8	chr8:103468800-103469600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:103468800-103469600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:103468800-103470000	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:103469000-103469400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:103469000-103469400	Enhancers	K562	blood
13	chr8:103469000-103469600	Enhancers	Brain Substantia Nigra	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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