Variant report

Variant	rs17728649
Chromosome Location	chr8:89259873-89259874
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:16)

rs_ID	r²[population]
rs17666351	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17666560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17666825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17722705	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17723163	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28904602	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28904630	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55799901	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57187913	0.84[EUR][1000 genomes]
rs57837867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59592564	0.89[AMR][1000 genomes]
rs6993842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73692207	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73692208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73694276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7835443	1.00[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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891170	chr8:89227970-89298199	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89239000-89260800	Weak transcription	Aorta	Aorta
2	chr8:89252600-89264400	Weak transcription	Fetal Heart	heart
3	chr8:89256000-89261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:89256800-89260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:89256800-89264400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:89257000-89261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:89257400-89275400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:89257800-89261600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:89258000-89261400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:89258400-89261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:89259200-89260000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:89259400-89261600	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:89259600-89260200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:89259600-89260200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:89259600-89260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:89259800-89261600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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