Variant report

Variant	rs73708494
Chromosome Location	chr8:119452752-119452753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10090978	1.00[ASN][1000 genomes]
rs10095856	1.00[ASN][1000 genomes]
rs10505340	1.00[ASN][1000 genomes]
rs10505341	1.00[ASN][1000 genomes]
rs17682473	1.00[ASN][1000 genomes]
rs17749697	1.00[ASN][1000 genomes]
rs2030454	1.00[ASN][1000 genomes]
rs41423651	1.00[ASN][1000 genomes]
rs4641102	1.00[ASN][1000 genomes]
rs55666480	1.00[ASN][1000 genomes]
rs56206420	1.00[ASN][1000 genomes]
rs56234774	1.00[ASN][1000 genomes]
rs56707073	1.00[ASN][1000 genomes]
rs56978296	1.00[ASN][1000 genomes]
rs58370206	1.00[ASN][1000 genomes]
rs59704871	1.00[ASN][1000 genomes]
rs60042461	1.00[ASN][1000 genomes]
rs60649741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60695012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62531915	1.00[ASN][1000 genomes]
rs62531917	1.00[ASN][1000 genomes]
rs62531929	1.00[ASN][1000 genomes]
rs62531930	1.00[ASN][1000 genomes]
rs62533399	1.00[ASN][1000 genomes]
rs6987819	1.00[ASN][1000 genomes]
rs6988736	1.00[ASN][1000 genomes]
rs7000978	0.87[AFR][1000 genomes]
rs7010079	1.00[ASN][1000 genomes]
rs7013355	1.00[AFR][1000 genomes]
rs73313463	1.00[ASN][1000 genomes]
rs73319373	1.00[ASN][1000 genomes]
rs73319376	1.00[ASN][1000 genomes]
rs73319379	1.00[ASN][1000 genomes]
rs73319388	1.00[ASN][1000 genomes]
rs73319391	1.00[ASN][1000 genomes]
rs73319397	1.00[ASN][1000 genomes]
rs73319402	1.00[ASN][1000 genomes]
rs73321307	1.00[ASN][1000 genomes]
rs73321311	1.00[ASN][1000 genomes]
rs73321314	1.00[ASN][1000 genomes]
rs73321315	1.00[ASN][1000 genomes]
rs73321321	1.00[ASN][1000 genomes]
rs73708328	0.91[AFR][1000 genomes]
rs73708330	1.00[ASN][1000 genomes]
rs73708331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73708333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73708496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73708498	1.00[AFR][1000 genomes]
rs73710214	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73710217	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817162	1.00[ASN][1000 genomes]
rs7830872	1.00[ASN][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:56 , 50 per page) page: 1 2

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	chr8:119449200-119452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:119449200-119475400	Weak transcription	Gastric	stomach
7	chr8:119449400-119453200	Enhancers	HMEC	breast
8	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial
11	chr8:119450200-119453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:119450400-119453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119450400-119454000	Enhancers	Osteobl	bone
14	chr8:119450600-119453400	Enhancers	HSMM	muscle
15	chr8:119450800-119453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:119450800-119453400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:119450800-119453400	Enhancers	HSMMtube	muscle
18	chr8:119450800-119454200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:119451000-119452800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:119451000-119453200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:119451000-119453400	Enhancers	NHLF	lung
22	chr8:119451200-119453000	Enhancers	Right Atrium	heart
23	chr8:119451400-119452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:119451600-119453200	Enhancers	Fetal Heart	heart
25	chr8:119451600-119456400	Weak transcription	GM12878-XiMat	blood
26	chr8:119451800-119452800	Enhancers	Fetal Lung	lung
27	chr8:119451800-119452800	Flanking Active TSS	A549	lung
28	chr8:119451800-119453200	Enhancers	Adipose Nuclei	Adipose
29	chr8:119451800-119453400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:119452000-119452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:119452000-119452800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:119452000-119452800	Enhancers	Colon Smooth Muscle	Colon
33	chr8:119452000-119452800	Enhancers	Fetal Stomach	stomach
34	chr8:119452000-119453200	Enhancers	Fetal Muscle Leg	muscle
35	chr8:119452000-119453400	Enhancers	Ovary	ovary
36	chr8:119452200-119452800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:119452200-119452800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:119452200-119452800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:119452200-119452800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:119452200-119453000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:119452400-119452800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:119452400-119452800	Enhancers	Aorta	Aorta
43	chr8:119452400-119452800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:119452400-119452800	Enhancers	Stomach Mucosa	stomach
45	chr8:119452400-119453200	Enhancers	Brain Substantia Nigra	brain
46	chr8:119452400-119453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:119452400-119453400	Enhancers	Right Ventricle	heart
48	chr8:119452400-119456000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:119452400-119456000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:119452600-119453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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