Variant report

Variant	rs134526
Chromosome Location	chr22:28774710-28774711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1125250	0.83[ASN][1000 genomes]
rs1303845	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134179	0.81[EUR][1000 genomes]
rs134180	0.82[EUR][1000 genomes]
rs134489	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134500	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134507	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs134541	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134543	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134548	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134551	0.95[ASN][1000 genomes]
rs17503350	0.81[EUR][1000 genomes]
rs2223370	0.83[EUR][1000 genomes]
rs2346397	0.91[ASN][1000 genomes]
rs2346867	0.83[ASN][1000 genomes]
rs695272	0.92[ASN][1000 genomes]
rs695439	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs695591	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs695625	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs695659	0.85[ASN][1000 genomes]
rs695762	0.87[ASN][1000 genomes]
rs695796	0.89[ASN][1000 genomes]
rs695797	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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	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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28759800-28777200	Weak transcription	Fetal Stomach	stomach
2	chr22:28770000-28777400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:28770200-28774800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:28770200-28775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28770200-28775800	Weak transcription	Fetal Brain Female	brain
6	chr22:28770200-28777200	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:28770400-28775800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:28770400-28777000	Weak transcription	NHLF	lung
9	chr22:28772000-28775200	Weak transcription	Dnd41	blood
10	chr22:28772000-28777200	Weak transcription	Ovary	ovary
11	chr22:28772400-28777000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:28772400-28777200	Weak transcription	NHDF-Ad	bronchial
13	chr22:28772800-28775000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:28772800-28775000	Weak transcription	Liver	Liver
15	chr22:28772800-28775200	Weak transcription	Adipose Nuclei	Adipose
16	chr22:28772800-28775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:28772800-28777000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:28772800-28777000	Weak transcription	Osteobl	bone
19	chr22:28773000-28775800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:28773000-28777200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:28773200-28777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr22:28773600-28775400	Weak transcription	Fetal Lung	lung
23	chr22:28774400-28775200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr22:28774400-28777200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:28774600-28775400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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