Variant report

Variant	rs28756269
Chromosome Location	chr8:99409667-99409668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10098761	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10808360	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11775820	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11778073	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11783149	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12115160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12386847	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17310578	0.80[EUR][1000 genomes]
rs17310732	0.93[ASN][1000 genomes]
rs4130404	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7005600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843191	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9297284	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297285	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3391052	chr8:99409438-99409967	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99395400-99415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:99396800-99410000	Weak transcription	Fetal Lung	lung
3	chr8:99397000-99411600	Weak transcription	Right Ventricle	heart
4	chr8:99406400-99409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:99406400-99410400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99406800-99410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:99407600-99410200	Weak transcription	HMEC	breast
8	chr8:99408600-99410600	Enhancers	NHDF-Ad	bronchial
9	chr8:99408600-99416600	Enhancers	Ovary	ovary
10	chr8:99408800-99409800	Weak transcription	NHLF	lung
11	chr8:99408800-99410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:99408800-99410800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:99408800-99414600	Weak transcription	Esophagus	oesophagus
14	chr8:99409000-99410000	Weak transcription	Fetal Stomach	stomach
15	chr8:99409000-99410400	Weak transcription	Right Atrium	heart
16	chr8:99409400-99410800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:99409600-99410400	Enhancers	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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