Variant report

Variant	rs28516548
Chromosome Location	chr8:89073073-89073074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10101680	0.92[EUR][1000 genomes]
rs12334980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17646059	0.92[EUR][1000 genomes]
rs28856040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	nsv428520	chr8:88933423-89089323	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2758163	chr8:88963829-89133704	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2759625	chr8:88963829-89133704	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89051400-89101000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:89051600-89073600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:89051800-89084600	Weak transcription	Fetal Stomach	stomach
4	chr8:89052200-89073600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:89052200-89073600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:89052400-89090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:89052600-89073200	Weak transcription	Fetal Brain Male	brain
8	chr8:89054000-89073600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:89054000-89081200	Weak transcription	Fetal Brain Female	brain
10	chr8:89057600-89073600	Weak transcription	Fetal Kidney	kidney
11	chr8:89058600-89088800	Weak transcription	NH-A	brain
12	chr8:89065600-89093000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:89065800-89089000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:89067600-89081200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:89069800-89073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:89069800-89075600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:89069800-89086800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:89069800-89100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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