Variant report

Variant	rs16891015
Chromosome Location	chr8:119450115-119450116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16891018	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28365507	1.00[AMR][1000 genomes]
rs56066957	1.00[AMR][1000 genomes]
rs56118719	1.00[AMR][1000 genomes]
rs56758435	1.00[AMR][1000 genomes]
rs60577654	1.00[AMR][1000 genomes]
rs60660635	1.00[AMR][1000 genomes]
rs60842367	1.00[AMR][1000 genomes]
rs73311726	1.00[AMR][1000 genomes]
rs73313473	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327506	1.00[AMR][1000 genomes]
rs73327547	1.00[AMR][1000 genomes]
rs73708329	1.00[AMR][1000 genomes]
rs73708490	1.00[AMR][1000 genomes]
rs73708495	0.83[AFR][1000 genomes];1.00[AMR][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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119445600-119450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:119446000-119450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:119446200-119450400	Weak transcription	Osteobl	bone
5	chr8:119446400-119450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119446400-119451000	Weak transcription	NHLF	lung
7	chr8:119446800-119452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:119446800-119452200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:119447000-119452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:119447400-119450800	Weak transcription	GM12878-XiMat	blood
11	chr8:119447800-119450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:119448000-119452000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
14	chr8:119448400-119452200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:119449000-119450200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:119449000-119453400	Enhancers	NHEK	skin
18	chr8:119449200-119452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:119449200-119475400	Weak transcription	Gastric	stomach
21	chr8:119449400-119450200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:119449400-119453200	Enhancers	HMEC	breast
23	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:119449600-119451000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:119449800-119450400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:119449800-119451600	Weak transcription	Fetal Heart	heart
27	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial

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