Variant report

Variant	rs73682506
Chromosome Location	chr8:54530825-54530826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10093917	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1551906	0.81[EUR][1000 genomes]
rs1551907	0.81[EUR][1000 genomes]
rs1551908	0.81[EUR][1000 genomes]
rs1871093	0.81[EUR][1000 genomes]
rs28414831	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28448344	0.81[EUR][1000 genomes]
rs28498249	0.81[EUR][1000 genomes]
rs28679737	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6473849	0.81[EUR][1000 genomes]
rs6473873	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6983490	0.91[EUR][1000 genomes]
rs6987393	0.91[EUR][1000 genomes]
rs7001915	0.81[AFR][1000 genomes]
rs7008567	0.81[EUR][1000 genomes]
rs7009706	0.91[EUR][1000 genomes]
rs7011096	0.81[EUR][1000 genomes]
rs73680192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73680445	0.91[EUR][1000 genomes]
rs73680446	0.91[EUR][1000 genomes]
rs73682504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682527	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7825111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1813772	chr8:54520350-54540531	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3335953	chr8:54529448-54557707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54528400-54532000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:54529000-54531600	Weak transcription	Pancreas	Pancrea
3	chr8:54529200-54531400	Weak transcription	Fetal Heart	heart
4	chr8:54530000-54532000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:54530200-54531400	Enhancers	Fetal Thymus	thymus
6	chr8:54530400-54531200	Enhancers	Fetal Lung	lung
7	chr8:54530400-54531800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:54530600-54531600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:54530600-54531800	Enhancers	Brain Germinal Matrix	brain
10	chr8:54530600-54536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:54530800-54531000	Enhancers	Brain Hippocampus Middle	brain
12	chr8:54530800-54531200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:54530800-54531400	Enhancers	HUVEC	blood vessel
14	chr8:54530800-54531600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:54530800-54531800	Enhancers	Colon Smooth Muscle	Colon
16	chr8:54530800-54531800	Enhancers	Spleen	Spleen
17	chr8:54530800-54532000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54530800-54532000	Enhancers	Fetal Muscle Leg	muscle
19	chr8:54530800-54532000	Enhancers	Fetal Stomach	stomach
20	chr8:54530800-54532600	Enhancers	Fetal Brain Female	brain

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