Variant report

Variant	rs1394872
Chromosome Location	chr8:118053246-118053247
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11778200	0.82[JPT][hapmap]
rs11778222	0.86[JPT][hapmap]
rs11780215	0.82[JPT][hapmap]
rs11781067	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13258054	0.86[JPT][hapmap]
rs13269119	0.82[JPT][hapmap]
rs13281298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282002	0.86[JPT][hapmap]
rs1394871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394874	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665254	0.86[JPT][hapmap]
rs17745233	0.86[JPT][hapmap]
rs17812822	0.86[JPT][hapmap]
rs17812918	0.86[JPT][hapmap]
rs2202486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876369	0.86[JPT][hapmap]
rs4876701	0.86[JPT][hapmap]
rs4876702	0.86[JPT][hapmap]
rs6999899	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815720	0.82[JPT][hapmap]
rs7827401	0.82[JPT][hapmap]
rs7831269	0.82[JPT][hapmap]
rs7832168	0.86[JPT][hapmap]
rs905904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1032976	chr8:118032075-118065907	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118050400-118054200	Enhancers	HSMMtube	muscle
2	chr8:118050600-118053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:118050600-118053600	Enhancers	HSMM	muscle
4	chr8:118050800-118053600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:118050800-118053600	Enhancers	Osteobl	bone
6	chr8:118050800-118053800	Enhancers	Colon Smooth Muscle	Colon
7	chr8:118051800-118053600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:118052000-118053400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118052000-118053600	Enhancers	NHLF	lung
10	chr8:118052200-118053800	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:118052200-118054000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:118052600-118056600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:118052800-118053400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:118052800-118053400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:118052800-118053400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr8:118052800-118054000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:118053200-118053400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118053200-118053400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:118053200-118054000	Enhancers	Fetal Muscle Leg	muscle
20	chr8:118053200-118056600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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