Variant report

Variant	rs8003799
Chromosome Location	chr14:21178988-21178989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10133492	0.93[ASN][1000 genomes]
rs11156634	0.95[ASN][1000 genomes]
rs11156636	0.96[ASN][1000 genomes]
rs11628398	0.96[ASN][1000 genomes]
rs12433896	0.95[ASN][1000 genomes]
rs12886925	0.93[ASN][1000 genomes]
rs4982346	0.96[ASN][1000 genomes]
rs6571358	0.93[ASN][1000 genomes]
rs6571359	0.93[ASN][1000 genomes]
rs7151941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160404	0.92[ASN][1000 genomes]
rs8003813	1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007797	0.98[ASN][1000 genomes]
rs8008116	0.98[ASN][1000 genomes]
rs8010034	0.96[ASN][1000 genomes]
rs8011651	0.98[ASN][1000 genomes]
rs8012051	0.98[ASN][1000 genomes]
rs8015364	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription 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	32 gene(s)	inside rSNPs	diseases
6	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8003799	RNASE6	cis	Whole Blood	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21166400-21182800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:21168000-21182200	Weak transcription	Pancreas	Pancrea
3	chr14:21168000-21194600	Weak transcription	Gastric	stomach
4	chr14:21175400-21181200	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:21176000-21182800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:21176200-21179600	Weak transcription	Adipose Nuclei	Adipose
7	chr14:21176400-21181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:21176400-21187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:21176800-21182800	Weak transcription	Fetal Lung	lung
10	chr14:21177800-21179600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:21178800-21183800	Enhancers	Stomach Mucosa	stomach

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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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