Variant report

Variant	rs13054508
Chromosome Location	chr22:28775845-28775846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13053405	0.85[EUR][1000 genomes]
rs13054496	0.94[EUR][1000 genomes]
rs13055501	0.94[EUR][1000 genomes]
rs13055576	0.91[EUR][1000 genomes]
rs13056319	1.00[CEU][hapmap]
rs13056425	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13056776	0.85[EUR][1000 genomes]
rs13057182	1.00[CEU][hapmap]
rs13057685	0.85[EUR][1000 genomes]
rs13057692	0.88[EUR][1000 genomes]
rs13058473	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16986197	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes]
rs2142917	0.90[AFR][1000 genomes]
rs34176007	0.82[EUR][1000 genomes]
rs34188840	0.85[EUR][1000 genomes]
rs34277219	0.85[EUR][1000 genomes]
rs34783791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34843903	0.91[EUR][1000 genomes]
rs34925495	0.82[EUR][1000 genomes]
rs34928826	0.91[EUR][1000 genomes]
rs34929472	0.91[EUR][1000 genomes]
rs34970554	0.91[EUR][1000 genomes]
rs34994167	0.94[EUR][1000 genomes]
rs35230579	0.81[EUR][1000 genomes]
rs35286648	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs35507981	0.91[EUR][1000 genomes]
rs35719457	1.00[EUR][1000 genomes]
rs36100499	0.85[EUR][1000 genomes]
rs58433661	0.85[EUR][1000 genomes]
rs71325275	0.92[AFR][1000 genomes]
rs71325276	0.89[AFR][1000 genomes]
rs71325290	0.88[EUR][1000 genomes]
rs71325299	0.91[EUR][1000 genomes]
rs71327305	0.81[EUR][1000 genomes]
rs7286202	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs8136113	0.85[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	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	chr22:28770200-28777200	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:28770400-28777000	Weak transcription	NHLF	lung
5	chr22:28772000-28777200	Weak transcription	Ovary	ovary
6	chr22:28772400-28777000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:28772400-28777200	Weak transcription	NHDF-Ad	bronchial
8	chr22:28772800-28777000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28772800-28777000	Weak transcription	Osteobl	bone
10	chr22:28773000-28777200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:28773200-28777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:28774400-28777200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr22:28775000-28776400	Enhancers	Liver	Liver
14	chr22:28775000-28777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:28775200-28776000	Enhancers	Dnd41	blood
16	chr22:28775200-28776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:28775200-28778200	Enhancers	Adipose Nuclei	Adipose
18	chr22:28775600-28776000	Weak transcription	Fetal Lung	lung
19	chr22:28775600-28776800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:28775600-28776800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:28775800-28776000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:28775800-28776000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:28775800-28776400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr22:28775800-28777200	Weak transcription	A549	lung
25	chr22:28775800-28778200	Enhancers	Fetal Brain Female	brain

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