Variant report

Variant	rs58046990
Chromosome Location	chr8:10568662-10568663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10093550	1.00[EUR][1000 genomes]
rs28625845	1.00[EUR][1000 genomes]
rs4349948	1.00[EUR][1000 genomes]
rs56020877	1.00[EUR][1000 genomes]
rs58060783	1.00[EUR][1000 genomes]
rs58667747	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59019446	1.00[EUR][1000 genomes]
rs59205544	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59383863	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59891547	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974525	1.00[EUR][1000 genomes]
rs60441085	1.00[EUR][1000 genomes]
rs61073299	1.00[EUR][1000 genomes]
rs61213977	1.00[EUR][1000 genomes]
rs61742975	1.00[EUR][1000 genomes]
rs6992420	1.00[EUR][1000 genomes]
rs6999508	1.00[EUR][1000 genomes]
rs7016693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018069	1.00[EUR][1000 genomes]
rs73537536	1.00[EUR][1000 genomes]
rs73539548	1.00[EUR][1000 genomes]
rs73539556	1.00[EUR][1000 genomes]
rs73662604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73662874	1.00[EUR][1000 genomes]
rs7827948	1.00[EUR][1000 genomes]
rs7831579	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845069	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3438992	chr8:10564842-10569440	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10567400-10570400	Enhancers	Esophagus	oesophagus
2	chr8:10567400-10571800	Enhancers	HMEC	breast
3	chr8:10567800-10571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:10567800-10572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10568000-10568800	Flanking Active TSS	Hela-S3	cervix
6	chr8:10568000-10568800	Flanking Active TSS	NHEK	skin
7	chr8:10568000-10569000	Enhancers	Right Ventricle	heart
8	chr8:10568000-10569600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:10568200-10568800	Enhancers	Right Atrium	heart
10	chr8:10568200-10569000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:10568200-10569000	Enhancers	Spleen	Spleen
12	chr8:10568200-10569000	Enhancers	GM12878-XiMat	blood
13	chr8:10568200-10569000	Enhancers	NH-A	brain
14	chr8:10568200-10569200	Enhancers	Adipose Nuclei	Adipose
15	chr8:10568200-10569400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:10568200-10569400	Enhancers	Fetal Thymus	thymus
17	chr8:10568200-10569400	Enhancers	Left Ventricle	heart
18	chr8:10568200-10569600	Enhancers	Lung	lung
19	chr8:10568400-10568800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10568400-10568800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr8:10568400-10568800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:10568400-10568800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:10568400-10568800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr8:10568400-10568800	Flanking Active TSS	HUVEC	blood vessel
25	chr8:10568400-10569000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:10568400-10569000	Enhancers	A549	lung
27	chr8:10568400-10569000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:10568400-10569400	Enhancers	K562	blood
29	chr8:10568600-10568800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:10568600-10568800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:10568600-10568800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:10568600-10569000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:10568600-10569000	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:10568600-10569000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:10568600-10569000	Enhancers	Placenta	Placenta
36	chr8:10568600-10569200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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