Variant report

Variant	rs6469734
Chromosome Location	chr8:119338461-119338462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10087006	0.96[ASN][1000 genomes]
rs10110149	0.94[ASN][1000 genomes]
rs10481135	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994015	0.87[EUR][1000 genomes]
rs12155712	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13248150	0.89[EUR][1000 genomes]
rs4579562	0.85[EUR][1000 genomes]
rs4593580	0.95[ASN][1000 genomes]
rs58783663	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67368455	0.83[EUR][1000 genomes]
rs6980537	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983634	0.87[ASN][1000 genomes]
rs6988788	0.96[ASN][1000 genomes]
rs6988804	0.96[ASN][1000 genomes]
rs6993640	0.96[ASN][1000 genomes]
rs6993964	0.96[ASN][1000 genomes]
rs6994128	0.89[EUR][1000 genomes]
rs6994270	0.89[EUR][1000 genomes]
rs6994852	0.96[ASN][1000 genomes]
rs6996602	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008611	0.89[EUR][1000 genomes]
rs7008800	0.96[ASN][1000 genomes]
rs7013508	0.96[ASN][1000 genomes]
rs7018387	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73323697	0.87[EUR][1000 genomes]
rs7818835	0.88[ASN][1000 genomes]
rs7827637	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829943	0.84[CEU][hapmap]
rs7831174	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832024	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv8382	chr8:119324224-119341066	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
2	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
4	chr8:119330800-119361000	Weak transcription	Pancreas	Pancrea
5	chr8:119335400-119343600	Weak transcription	NHDF-Ad	bronchial
6	chr8:119336000-119345200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:119336800-119339600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:119337000-119339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:119337000-119339800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:119338000-119348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:119338400-119343800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:119338400-119344600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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