Variant report

Variant	rs34997644
Chromosome Location	chr8:119320258-119320259
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10481135	0.85[EUR][1000 genomes]
rs11997306	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155712	0.87[EUR][1000 genomes]
rs13248150	0.82[EUR][1000 genomes]
rs13275560	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1485895	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17748839	0.99[ASN][1000 genomes]
rs4579562	0.81[ASN][1000 genomes]
rs6994128	0.82[EUR][1000 genomes]
rs6994270	0.82[EUR][1000 genomes]
rs7008611	0.82[EUR][1000 genomes]
rs7813475	0.99[ASN][1000 genomes]
rs7825192	0.82[ASN][1000 genomes]
rs7827637	0.86[EUR][1000 genomes]
rs7827787	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829943	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832024	0.83[EUR][1000 genomes]
rs9297582	0.87[EUR][1000 genomes];0.88[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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' 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
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119304200-119322200	Weak transcription	GM12878-XiMat	blood
2	chr8:119319200-119320600	Enhancers	Fetal Heart	heart
3	chr8:119320000-119320400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:119320000-119320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:119320000-119320600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:119320000-119320600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:119320000-119320600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:119320000-119320600	Enhancers	Fetal Intestine Small	intestine
9	chr8:119320000-119320800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:119320000-119320800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:119320000-119320800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:119320200-119320600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:119320200-119322600	Weak transcription	Left Ventricle	heart
14	chr8:119320200-119322800	Weak transcription	Gastric	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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