Variant report

Variant	rs73692159
Chromosome Location	chr8:68469831-68469832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2170423	0.84[AFR][1000 genomes]
rs2170424	0.84[AFR][1000 genomes]
rs55883952	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7001506	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73692156	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73692157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73692160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs869285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68468400-68470000	Enhancers	Pancreas	Pancrea
2	chr8:68468600-68470000	Enhancers	Fetal Stomach	stomach
3	chr8:68468800-68472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:68469000-68470600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:68469200-68470400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:68469200-68470400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:68469200-68471000	Enhancers	Brain Hippocampus Middle	brain
8	chr8:68469400-68470000	Enhancers	Brain Anterior Caudate	brain
9	chr8:68469400-68470200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:68469400-68470200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr8:68469400-68470200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:68469400-68470200	Enhancers	HMEC	breast
13	chr8:68469400-68470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:68469400-68470400	Enhancers	NHEK	skin
15	chr8:68469400-68470600	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:68469400-68470600	Enhancers	Brain Substantia Nigra	brain
17	chr8:68469600-68470000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:68469600-68470000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:68469600-68470000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:68469600-68470000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:68469600-68470200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:68469600-68470200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:68469600-68470200	Enhancers	Fetal Lung	lung
24	chr8:68469600-68470200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:68469600-68470400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:68469600-68470400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:68469600-68470600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:68469600-68470800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:68469600-68471200	Enhancers	Adipose Nuclei	Adipose
30	chr8:68469800-68470200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:68469800-68470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:68469800-68470600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:68469800-68471000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:68469800-68471000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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