Variant report

Variant	rs2082701
Chromosome Location	chr8:69063016-69063017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10105053	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13253979	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1369165	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1434781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545065	0.86[CEU][hapmap];0.97[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1865428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1865429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003187	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2217788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007590	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011806	0.81[AMR][1000 genomes]
rs7819318	0.92[CEU][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7828065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839036	0.81[AMR][1000 genomes]
rs7839608	0.81[AMR][1000 genomes]
rs874805	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][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:35 , 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	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
3	chr8:69021000-69067600	Weak transcription	Right Ventricle	heart
4	chr8:69033200-69066800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:69035200-69064600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:69037400-69064800	Weak transcription	Left Ventricle	heart
7	chr8:69041000-69068400	Weak transcription	Lung	lung
8	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:69045400-69066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:69045600-69066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:69047000-69070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:69047800-69066200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:69050000-69065200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:69059400-69066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:69059400-69066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:69059800-69064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:69061200-69063600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:69061200-69063800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:69061400-69063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:69062000-69063400	Enhancers	HUVEC	blood vessel
26	chr8:69062200-69063200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:69062600-69063200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:69062600-69063400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:69062600-69063400	Enhancers	NHEK	skin
30	chr8:69062600-69063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:69062600-69063600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:69062600-69063800	Enhancers	HMEC	breast
33	chr8:69062800-69063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:69063000-69063200	Enhancers	K562	blood
35	chr8:69063000-69063400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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