Variant report

Variant	rs13253979
Chromosome Location	chr8:69064007-69064008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10105053	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1369165	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1434781	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1545065	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1865428	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1865429	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1897873	0.81[AMR][1000 genomes]
rs2003187	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2082701	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2164168	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217788	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7007590	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011806	0.83[AMR][1000 genomes]
rs7819318	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828065	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839036	0.83[AMR][1000 genomes]
rs7839608	0.83[AMR][1000 genomes]
rs874805	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:26 , 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	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:69063200-69064600	Weak transcription	K562	blood
22	chr8:69063200-69066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:69063400-69064800	Weak transcription	HUVEC	blood vessel
24	chr8:69063400-69065000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:69063800-69068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:69064000-69064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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