Variant report

Variant	rs73207496
Chromosome Location	chr8:11288485-11288486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12115021	0.85[EUR][1000 genomes]
rs2001462	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021512	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021517	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3021518	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55764254	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56003968	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56138616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235592	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56286613	0.87[EUR][1000 genomes]
rs56388647	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58319820	0.81[EUR][1000 genomes]
rs58387061	0.83[EUR][1000 genomes]
rs60320871	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66934548	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67350204	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67526040	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67539049	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67684445	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67909842	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67932868	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68063127	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73207493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73207500	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73209223	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209241	0.90[EUR][1000 genomes]
rs73209243	0.90[EUR][1000 genomes]
rs73209249	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73209250	0.90[EUR][1000 genomes]
rs73546310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73546312	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7832089	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835996	0.85[EUR][1000 genomes]
rs7839434	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
2	chr8:11276600-11291200	Weak transcription	Gastric	stomach
3	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
5	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
6	chr8:11284800-11288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:11286000-11295200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:11286600-11288600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:11286600-11296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:11287000-11289000	Enhancers	Placenta	Placenta
12	chr8:11287000-11289800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11287200-11289800	Enhancers	Osteobl	bone
14	chr8:11287400-11291400	Weak transcription	Left Ventricle	heart
15	chr8:11287400-11296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:11287400-11296400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:11287400-11297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:11287600-11291600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:11287800-11289400	Enhancers	Fetal Thymus	thymus
20	chr8:11287800-11289600	Enhancers	Thymus	Thymus
21	chr8:11287800-11291000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:11287800-11300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:11287800-11300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
25	chr8:11288000-11288600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11288000-11288600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:11288000-11289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:11288000-11290800	Weak transcription	Brain Substantia Nigra	brain
29	chr8:11288000-11290800	Weak transcription	Fetal Heart	heart
30	chr8:11288000-11297600	Weak transcription	HSMM	muscle
31	chr8:11288200-11291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:11288200-11300200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:11288400-11288600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:11288400-11288800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:11288400-11289000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:11288400-11289000	Strong transcription	NHEK	skin
37	chr8:11288400-11289200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:11288400-11289200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11288400-11291000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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