Variant report

Variant	rs73708495
Chromosome Location	chr8:119452964-119452965
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]
rs16891015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891018	0.84[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	0.97[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]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
2	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:119449000-119453400	Enhancers	NHEK	skin
4	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:119449200-119475400	Weak transcription	Gastric	stomach
6	chr8:119449400-119453200	Enhancers	HMEC	breast
7	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial
10	chr8:119450200-119453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:119450400-119453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:119450400-119454000	Enhancers	Osteobl	bone
13	chr8:119450600-119453400	Enhancers	HSMM	muscle
14	chr8:119450800-119453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119450800-119453400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:119450800-119453400	Enhancers	HSMMtube	muscle
17	chr8:119450800-119454200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:119451000-119453200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:119451000-119453400	Enhancers	NHLF	lung
20	chr8:119451200-119453000	Enhancers	Right Atrium	heart
21	chr8:119451600-119453200	Enhancers	Fetal Heart	heart
22	chr8:119451600-119456400	Weak transcription	GM12878-XiMat	blood
23	chr8:119451800-119453200	Enhancers	Adipose Nuclei	Adipose
24	chr8:119451800-119453400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:119452000-119453200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:119452000-119453400	Enhancers	Ovary	ovary
27	chr8:119452200-119453000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:119452400-119453200	Enhancers	Brain Substantia Nigra	brain
29	chr8:119452400-119453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:119452400-119453400	Enhancers	Right Ventricle	heart
31	chr8:119452400-119456000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:119452400-119456000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:119452600-119453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:119452600-119453000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:119452600-119453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:119452600-119453400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:119452600-119454200	Enhancers	Hela-S3	cervix
38	chr8:119452600-119454200	Enhancers	NH-A	brain
39	chr8:119452600-119455800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:119452800-119453000	Enhancers	A549	lung
41	chr8:119452800-119453200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:119452800-119453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:119452800-119454400	Weak transcription	Spleen	Spleen
44	chr8:119452800-119455200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:119452800-119456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:119452800-119456000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:119452800-119456000	Weak transcription	Aorta	Aorta
48	chr8:119452800-119456200	Weak transcription	Fetal Lung	lung
49	chr8:119452800-119456400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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