Variant report

Variant	rs4319060
Chromosome Location	chr8:107904146-107904147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28579317	0.90[ASN][1000 genomes]
rs2981231	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981251	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2981252	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2981256	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018940	0.80[ASN][1000 genomes]
rs3018941	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4236779	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4431568	0.92[ASN][1000 genomes]
rs4523227	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4524762	0.88[ASN][1000 genomes]
rs4734933	0.88[ASN][1000 genomes]
rs56073836	0.83[ASN][1000 genomes]
rs61449471	0.92[ASN][1000 genomes]
rs6469083	0.86[ASN][1000 genomes]
rs6469084	0.92[ASN][1000 genomes]
rs6992057	0.91[ASN][1000 genomes]
rs7007126	0.92[ASN][1000 genomes]
rs7827343	0.86[ASN][1000 genomes]
rs7831759	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843994	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv891265	chr8:107880864-107921739	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1796188	chr8:107900966-107928113	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107884000-107904600	Weak transcription	Psoas Muscle	Psoas
2	chr8:107900400-107905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107901000-107904600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:107901600-107904200	Enhancers	NHDF-Ad	bronchial
5	chr8:107901800-107904200	Enhancers	Osteobl	bone
6	chr8:107902000-107904200	Enhancers	NH-A	brain
7	chr8:107902000-107904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:107903000-107904200	Weak transcription	HSMMtube	muscle
9	chr8:107903000-107904600	Weak transcription	Aorta	Aorta
10	chr8:107903200-107904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:107903400-107904400	Weak transcription	NHLF	lung
12	chr8:107903800-107904200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:107904000-107904200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:107904000-107904400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:107904000-107904400	Enhancers	Adipose Nuclei	Adipose
16	chr8:107904000-107904400	Enhancers	HSMM	muscle
17	chr8:107904000-107904800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:107904000-107904800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:107904000-107904800	Enhancers	Fetal Kidney	kidney
20	chr8:107904000-107904800	Enhancers	Ovary	ovary
21	chr8:107904000-107904800	Enhancers	Right Ventricle	heart
22	chr8:107904000-107905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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