Variant report

Variant	rs12056532
Chromosome Location	chr8:69061106-69061107
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12682041	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12682429	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16934224	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs2890423	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793380	0.83[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4236959	0.85[AMR][1000 genomes]
rs4454258	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4582543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737253	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7831861	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7843248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69007400-69066200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:69016800-69062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
4	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
5	chr8:69033200-69066800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:69035200-69064600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:69037400-69064800	Weak transcription	Left Ventricle	heart
8	chr8:69041000-69068400	Weak transcription	Lung	lung
9	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:69045400-69066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:69045600-69066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:69047000-69070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:69047800-69066200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:69050000-69065200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:69051800-69061400	Weak transcription	Pancreas	Pancrea
18	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:69055600-69061400	Weak transcription	HUVEC	blood vessel
20	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:69056400-69061400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:69057000-69062200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:69058200-69061400	Weak transcription	Adipose Nuclei	Adipose
24	chr8:69059400-69066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:69059400-69066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:69059800-69064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:69061000-69061200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:69061000-69061400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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