Variant report

Variant	rs34766719
Chromosome Location	chr4:119559314-119559315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12651650	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34016523	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35183273	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35731099	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4001330	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67276048	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67655207	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6833597	0.96[ASN][1000 genomes]
rs6855978	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71241793	0.93[ASN][1000 genomes]
rs71610209	0.85[AMR][1000 genomes]
rs71610221	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9760578	0.81[AMR][1000 genomes];0.88[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv980251	chr4:119510579-119563981	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1824927	chr4:119521936-119577466	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv966369	chr4:119539088-119559938	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1822873	chr4:119542500-119577466	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv16226	chr4:119552399-119584340	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs34766719	RP11-384K6.6	cis	Esophagus Mucosa	GTEx
rs34766719	RP11-384K6.2	cis	Whole Blood	GTEx
rs34766719	RP11-384K6.6	cis	Artery Tibial	GTEx
rs34766719	RP11-384K6.6	cis	Nerve Tibial	GTEx
rs34766719	RP11-384K6.2	cis	Thyroid	GTEx
rs34766719	RP11-384K6.2	cis	Skin Sun Exposed Lower leg	GTEx
rs34766719	RP11-384K6.2	cis	Artery Tibial	GTEx
rs34766719	RP11-384K6.2	cis	Nerve Tibial	GTEx
rs34766719	RP11-384K6.6	cis	Thyroid	GTEx
rs34766719	RP11-384K6.6	cis	lung	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119554800-119560400	Weak transcription	Fetal Brain Female	brain
2	chr4:119556000-119559400	Weak transcription	Placenta	Placenta
3	chr4:119557800-119559400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:119557800-119559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:119557800-119559400	Weak transcription	Fetal Stomach	stomach
6	chr4:119559000-119561600	Weak transcription	H1 Derived Mesenchymal Stem 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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