Variant report

Variant	rs1481051
Chromosome Location	chr8:39939430-39939431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1383604	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481058	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1481059	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1481065	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481066	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1600691	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1842538	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1904909	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127883	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929091	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929094	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929097	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2929100	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955862	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955923	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955928	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955930	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981133	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981135	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981137	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981139	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981140	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981191	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2981192	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2981194	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981195	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7010922	0.87[JPT][hapmap]
rs7824665	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827065	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7828920	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7829590	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39937800-39939800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:39938000-39939600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:39938000-39939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:39938200-39939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:39938200-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:39938200-39939800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:39938200-39939800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:39938400-39939600	Enhancers	Fetal Brain Female	brain
9	chr8:39938800-39939600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:39939000-39939600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:39939000-39939600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:39939000-39939600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:39939000-39939600	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr8:39939000-39939600	Enhancers	Stomach Mucosa	stomach
15	chr8:39939000-39939600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr8:39939000-39939800	Active TSS	Brain Anterior Caudate	brain
17	chr8:39939200-39939600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:39939200-39939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:39939200-39939600	Flanking Active TSS	Liver	Liver
20	chr8:39939200-39939600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr8:39939200-39939600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:39939200-39939600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:39939200-39939600	Enhancers	HSMMtube	muscle
24	chr8:39939200-39939800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr8:39939200-39939800	Enhancers	Fetal Brain Male	brain
26	chr8:39939400-39939600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:39939400-39939600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:39939400-39939600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:39939400-39939600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:39939400-39939600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:39939400-39939600	Enhancers	Brain Angular Gyrus	brain
32	chr8:39939400-39939600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:39939400-39939600	Enhancers	Brain Substantia Nigra	brain
34	chr8:39939400-39939600	Enhancers	Fetal Lung	lung
35	chr8:39939400-39939600	Flanking Active TSS	Ovary	ovary
36	chr8:39939400-39939600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr8:39939400-39939800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:39939400-39939800	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:39939400-39939800	Flanking Active TSS	A549	lung
40	chr8:39939400-39940400	Enhancers	HepG2	liver
41	chr8:39939400-39943600	Weak transcription	Fetal Stomach	stomach

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