Variant report

Variant	rs7815326
Chromosome Location	chr8:20236044-20236045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58715737	1.00[AMR][1000 genomes]
rs6993828	1.00[AMR][1000 genomes]
rs7009554	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612017	1.00[AMR][1000 genomes]
rs73612020	1.00[AMR][1000 genomes]
rs73612025	1.00[AMR][1000 genomes]
rs7835563	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20232400-20236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:20233000-20236600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:20233200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:20233400-20238400	Enhancers	HSMM	muscle
6	chr8:20234000-20236800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:20234000-20237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:20234200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:20234200-20239400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:20234400-20236200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:20234400-20236600	Weak transcription	NHDF-Ad	bronchial
12	chr8:20234800-20236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:20234800-20236200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:20234800-20236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:20234800-20239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:20235000-20236200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:20235000-20236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:20235400-20238600	Enhancers	HSMMtube	muscle
19	chr8:20235600-20236800	Enhancers	HMEC	breast
20	chr8:20235600-20236800	Enhancers	NH-A	brain
21	chr8:20235600-20237000	Enhancers	Osteobl	bone
22	chr8:20235800-20236600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:20235800-20236800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:20235800-20237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:20235800-20237000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:20235800-20237400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:20235800-20238200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:20236000-20236200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:20236000-20236400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:20236000-20236600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:20236000-20236600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:20236000-20236800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:20236000-20236800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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