Variant report

Variant	rs12484429
Chromosome Location	chr22:33094375-33094376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089591	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13054529	0.81[CHD][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13058500	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs1475978	0.91[CHB][hapmap];0.88[CHD][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1475979	0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs16991028	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16991084	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs4821089	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs5754222	0.80[CHD][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs5754226	0.80[CHB][hapmap]
rs5754227	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs725338	0.81[ASN][1000 genomes]
rs7286819	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs7289865	0.97[ASN][1000 genomes]
rs7291090	0.80[AMR][1000 genomes]
rs731933	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs743741	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs743744	0.82[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33088800-33096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:33091000-33096000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33091200-33096800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:33091200-33097600	Enhancers	HMEC	breast
5	chr22:33091400-33094600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:33091400-33096200	Enhancers	NHDF-Ad	bronchial
7	chr22:33091400-33097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33091600-33094400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:33091600-33094600	Enhancers	NHEK	skin
10	chr22:33091600-33096800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:33091800-33095000	Weak transcription	Esophagus	oesophagus
12	chr22:33091800-33096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:33092200-33096000	Weak transcription	A549	lung
14	chr22:33092200-33096200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:33092200-33097200	Enhancers	Fetal Stomach	stomach
16	chr22:33092400-33095400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:33092400-33096200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:33092400-33096400	Weak transcription	Stomach Mucosa	stomach
19	chr22:33092600-33097200	Enhancers	Fetal Muscle Leg	muscle
20	chr22:33093000-33096200	Weak transcription	HSMM	muscle
21	chr22:33093200-33095400	Weak transcription	Osteobl	bone
22	chr22:33093400-33094800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:33093400-33097400	Enhancers	Fetal Lung	lung
24	chr22:33093800-33094800	Weak transcription	Hela-S3	cervix
25	chr22:33093800-33096000	Weak transcription	NHLF	lung
26	chr22:33094000-33094800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:33094000-33095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:33094000-33095000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr22:33094000-33095000	Weak transcription	Right Atrium	heart
30	chr22:33094000-33095400	Weak transcription	HSMMtube	muscle
31	chr22:33094000-33097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:33094000-33097200	Enhancers	HepG2	liver
33	chr22:33094200-33094600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:33094200-33094600	Weak transcription	Placenta	Placenta
35	chr22:33094200-33095200	Weak transcription	Right Ventricle	heart

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