Variant report

Variant	rs13057692
Chromosome Location	chr22:28737727-28737728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13054496	0.82[EUR][1000 genomes]
rs13054508	0.88[EUR][1000 genomes]
rs13055501	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13056121	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13056319	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13056425	0.94[EUR][1000 genomes]
rs13057182	0.88[EUR][1000 genomes]
rs13057685	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13058473	0.94[EUR][1000 genomes]
rs16986197	0.86[EUR][1000 genomes]
rs2142917	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28360522	0.80[AFR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34453094	0.88[EUR][1000 genomes]
rs34783791	0.94[EUR][1000 genomes]
rs34925495	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34962554	0.88[EUR][1000 genomes]
rs34994167	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35051985	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35719457	0.88[EUR][1000 genomes]
rs35738822	0.82[EUR][1000 genomes]
rs35812775	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs71325290	1.00[EUR][1000 genomes]
rs7286202	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8138142	0.93[AFR][1000 genomes]
rs8141981	0.80[AFR][1000 genomes]
rs8142398	0.93[AFR][1000 genomes];0.88[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28735000-28740600	Weak transcription	Fetal Stomach	stomach
2	chr22:28736000-28744200	Weak transcription	Lung	lung
3	chr22:28736200-28740800	Weak transcription	Fetal Kidney	kidney
4	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:28736600-28737800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:28736600-28737800	Enhancers	HUVEC	blood vessel
7	chr22:28736800-28738000	Enhancers	NHDF-Ad	bronchial
8	chr22:28737200-28742200	Weak transcription	Fetal Brain Female	brain
9	chr22:28737200-28742600	Weak transcription	Dnd41	blood
10	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:28737400-28738000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:28737400-28738000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:28737400-28738000	Enhancers	Left Ventricle	heart
14	chr22:28737400-28739600	Weak transcription	HMEC	breast
15	chr22:28737400-28739600	Weak transcription	NHEK	skin
16	chr22:28737400-28740000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28737400-28740200	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:28737400-28740600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:28737600-28739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:28737600-28740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:28737600-28740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:28737600-28740200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:28737600-28740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:28737600-28740600	Weak transcription	Osteobl	bone
26	chr22:28737600-28740800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:28737600-28740800	Weak transcription	Adipose Nuclei	Adipose
28	chr22:28737600-28741000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:28737600-28741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:28737600-28741400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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