Variant report

Variant	rs11778583
Chromosome Location	chr8:49218093-49218094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1022140	0.82[EUR][1000 genomes]
rs11778932	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11782777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786911	0.87[ASN][1000 genomes]
rs13251743	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7011212	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49216400-49218600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49216400-49219200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:49217000-49219200	Enhancers	HMEC	breast
4	chr8:49217000-49219200	Enhancers	HSMM	muscle
5	chr8:49217000-49219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:49217200-49219200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:49217200-49219200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:49217200-49219200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:49217200-49219400	Enhancers	NHLF	lung
10	chr8:49217400-49218200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:49217400-49218400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:49217400-49218400	Enhancers	HSMMtube	muscle
13	chr8:49217400-49218400	Enhancers	NHDF-Ad	bronchial
14	chr8:49217400-49218600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:49217400-49218600	Enhancers	NHEK	skin
16	chr8:49217400-49218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:49217400-49219200	Enhancers	NH-A	brain
18	chr8:49217400-49219200	Enhancers	Osteobl	bone
19	chr8:49217400-49222400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:49217600-49218200	Enhancers	Esophagus	oesophagus
21	chr8:49217600-49218600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:49217600-49220200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:49217800-49218200	Enhancers	Fetal Stomach	stomach
24	chr8:49217800-49218400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:49217800-49218400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:49218000-49218200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:49218000-49218400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:49218000-49222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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