Variant report

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11090520	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17409164	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17409195	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs738398	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs738474	1.00[AFR][1000 genomes]
rs9608663	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9608666	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9608675	0.82[AMR][1000 genomes]
rs9613549	1.00[AFR][1000 genomes]
rs9613552	1.00[AFR][1000 genomes]
rs9613558	1.00[AFR][1000 genomes]
rs9613560	1.00[AFR][1000 genomes]
rs9613568	0.86[EUR][1000 genomes]
rs9613569	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9613573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9613575	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9613591	1.00[AFR][1000 genomes]
rs9613613	1.00[AFR][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	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
4	nsv962867	chr22:28595811-28611386	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28600200-28616400	Weak transcription	Ovary	ovary
2	chr22:28602400-28604400	Enhancers	HUVEC	blood vessel
3	chr22:28602600-28604600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:28602800-28604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:28602800-28604600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr22:28603000-28604000	Enhancers	Colon Smooth Muscle	Colon
7	chr22:28603000-28604400	Enhancers	NHLF	lung
8	chr22:28603000-28604600	Enhancers	NH-A	brain
9	chr22:28603000-28605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:28603200-28604600	Enhancers	Osteobl	bone
11	chr22:28603200-28605200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:28603400-28604200	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:28603400-28604400	Enhancers	NHDF-Ad	bronchial
14	chr22:28603600-28604200	Enhancers	Aorta	Aorta
15	chr22:28603600-28604200	Enhancers	HSMM	muscle
16	chr22:28603600-28604600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:28603600-28604600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:28603600-28604600	Enhancers	NHEK	skin
19	chr22:28603600-28605800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:28603800-28604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:28603800-28604400	Enhancers	HMEC	breast

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