Variant report

Variant	rs28380506
Chromosome Location	chr8:10455768-10455769
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10109892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10110911	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28679852	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55765735	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56084099	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56280406	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6998434	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6999083	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6999926	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7010166	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73201144	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73201145	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201146	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201148	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv610269	chr8:10416017-10461484	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv610271	chr8:10438796-10459203	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890351	chr8:10439902-10482372	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv1022682	chr8:10453091-10501380	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10448200-10456200	Weak transcription	Liver	Liver
2	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
3	chr8:10452000-10455800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:10452000-10455800	Weak transcription	NH-A	brain
5	chr8:10453600-10455800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:10453800-10457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:10454400-10457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:10455200-10455800	Enhancers	NHEK	skin
9	chr8:10455200-10456400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10455200-10456800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10455200-10457000	Enhancers	Esophagus	oesophagus
12	chr8:10455200-10457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:10455200-10457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:10455200-10457400	Enhancers	Ovary	ovary
15	chr8:10455400-10455800	Enhancers	Hela-S3	cervix
16	chr8:10455400-10456200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:10455400-10456400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:10455400-10457000	Enhancers	HMEC	breast
19	chr8:10455600-10456200	Enhancers	Colon Smooth Muscle	Colon
20	chr8:10455600-10456200	Weak transcription	Spleen	Spleen
21	chr8:10455600-10456200	Enhancers	HSMM	muscle
22	chr8:10455600-10456200	Enhancers	HSMMtube	muscle
23	chr8:10455600-10456400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:10455600-10456400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:10455600-10456400	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:10455600-10456400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr8:10455600-10456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:10455600-10456600	Enhancers	HUVEC	blood vessel
29	chr8:10455600-10456800	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:10455600-10456800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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