Variant report

Variant	rs56049239
Chromosome Location	chr8:105236660-105236661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12549077	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12678347	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12680968	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819924	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3937644	0.88[EUR][1000 genomes]
rs4734091	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57992869	0.92[EUR][1000 genomes]
rs60418765	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667411	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73696571	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7831272	0.82[AFR][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	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105235000-105236800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:105235200-105236800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:105235200-105236800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:105235200-105236800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:105235200-105237000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:105235200-105237200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:105235200-105237400	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr8:105235400-105236800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:105235400-105236800	Active TSS	NHDF-Ad	bronchial
10	chr8:105236000-105237000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:105236200-105236800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:105236200-105236800	Flanking Active TSS	NHEK	skin
13	chr8:105236200-105237000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr8:105236400-105236800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr8:105236400-105236800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:105236400-105236800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:105236400-105236800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:105236400-105237000	Flanking Active TSS	HMEC	breast
19	chr8:105236600-105236800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:105236600-105236800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:105236600-105236800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:105236600-105236800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:105236600-105236800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:105236600-105236800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:105236600-105236800	Active TSS	Brain Anterior Caudate	brain
26	chr8:105236600-105236800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:105236600-105237000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:105236600-105237000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:105236600-105237000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr8:105236600-105237000	Bivalent Enhancer	Liver	Liver
31	chr8:105236600-105237000	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:105236600-105237000	Enhancers	Brain Substantia Nigra	brain
33	chr8:105236600-105237000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:105236600-105237400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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