Variant report

Variant	rs12056353
Chromosome Location	chr8:107447096-107447097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12548886	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12678499	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13250208	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874579	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66831434	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67340082	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72678575	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678591	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643023	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611844	chr8:107440038-107494918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107441000-107447200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:107443600-107447200	Weak transcription	Esophagus	oesophagus
3	chr8:107444800-107451400	Weak transcription	Aorta	Aorta
4	chr8:107445400-107447200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:107446400-107447400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:107446400-107447400	Enhancers	NH-A	brain
7	chr8:107446400-107447400	Enhancers	Osteobl	bone
8	chr8:107446400-107447600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:107446800-107447200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:107446800-107447400	Enhancers	Fetal Heart	heart
11	chr8:107446800-107447800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:107446800-107450200	Enhancers	Primary T cells from cord blood	blood
13	chr8:107447000-107447200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:107447000-107447200	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:107447000-107447200	Enhancers	Thymus	Thymus
16	chr8:107447000-107447200	Enhancers	NHLF	lung
17	chr8:107447000-107447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:107447000-107447400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:107447000-107447600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:107447000-107447600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:107447000-107447600	Enhancers	Stomach Mucosa	stomach
22	chr8:107447000-107447800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:107447000-107447800	Enhancers	Fetal Thymus	thymus
24	chr8:107447000-107447800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:107447000-107447800	Flanking Active TSS	HUVEC	blood vessel
26	chr8:107447000-107448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:107447000-107451400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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