Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13055501	0.80[AFR][1000 genomes]
rs13056121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13056319	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056425	0.94[EUR][1000 genomes]
rs13057182	1.00[EUR][1000 genomes]
rs13057685	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13057692	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13058473	0.94[EUR][1000 genomes]
rs16986197	0.97[EUR][1000 genomes]
rs2142917	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28360522	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34453094	1.00[EUR][1000 genomes]
rs34783791	0.94[EUR][1000 genomes]
rs34925495	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34962554	1.00[EUR][1000 genomes]
rs35738822	0.94[EUR][1000 genomes]
rs35812775	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71325290	0.88[EUR][1000 genomes]
rs8138142	0.93[AFR][1000 genomes]
rs8141981	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8142398	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28639600	Weak transcription	Ovary	ovary
2	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
3	chr22:28628000-28639400	Weak transcription	Fetal Heart	heart
4	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:28628600-28640800	Weak transcription	NHLF	lung
7	chr22:28631400-28640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28632200-28640200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:28632400-28640800	Weak transcription	Aorta	Aorta
10	chr22:28633600-28639600	Weak transcription	HSMM	muscle
11	chr22:28633600-28640800	Weak transcription	HSMMtube	muscle
12	chr22:28634200-28640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:28635600-28650800	Weak transcription	Dnd41	blood
14	chr22:28636400-28640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:28638400-28639400	Weak transcription	Fetal Brain Male	brain
16	chr22:28638400-28639400	Weak transcription	Osteobl	bone
17	chr22:28638400-28642000	Enhancers	K562	blood
18	chr22:28639000-28639400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28639000-28640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:28639200-28639800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:28639200-28639800	Enhancers	Left Ventricle	heart

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