Variant report

Variant	rs13058473
Chromosome Location	chr22:28656818-28656819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28655568..28657867-chr22:28658148..28660781,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13053179	1.00[AFR][1000 genomes]
rs13054508	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13056121	0.88[EUR][1000 genomes]
rs13056319	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13056425	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13057182	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13057685	0.91[EUR][1000 genomes]
rs13057692	0.94[EUR][1000 genomes]
rs16986197	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2142917	0.89[EUR][1000 genomes]
rs34013124	1.00[AFR][1000 genomes]
rs34176007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34262300	0.94[EUR][1000 genomes]
rs34453094	0.94[EUR][1000 genomes]
rs34586539	1.00[AFR][1000 genomes]
rs34783791	1.00[EUR][1000 genomes]
rs34925495	1.00[EUR][1000 genomes]
rs34962554	0.94[EUR][1000 genomes]
rs35051985	0.94[EUR][1000 genomes]
rs35417721	1.00[AFR][1000 genomes]
rs35523745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35719457	0.82[EUR][1000 genomes]
rs35738822	0.88[EUR][1000 genomes]
rs35812775	0.94[EUR][1000 genomes]
rs71325290	0.94[EUR][1000 genomes]
rs7286202	1.00[CEU][hapmap]
rs8142398	0.94[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
4	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:28651600-28663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:28651800-28690600	Weak transcription	Dnd41	blood
7	chr22:28653000-28664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28653000-28665000	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
10	chr22:28655400-28657000	Enhancers	Brain Hippocampus Middle	brain
11	chr22:28655400-28657000	Enhancers	Brain Substantia Nigra	brain
12	chr22:28655600-28657000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:28655600-28657200	Enhancers	Colon Smooth Muscle	Colon
14	chr22:28655600-28657200	Enhancers	Fetal Heart	heart
15	chr22:28655800-28657000	Enhancers	Adipose Nuclei	Adipose
16	chr22:28655800-28657000	Enhancers	Brain Angular Gyrus	brain
17	chr22:28655800-28657000	Enhancers	Rectal Smooth Muscle	rectum
18	chr22:28655800-28657200	Enhancers	Fetal Brain Male	brain
19	chr22:28655800-28657200	Enhancers	Ovary	ovary
20	chr22:28656000-28661200	Weak transcription	Aorta	Aorta
21	chr22:28656200-28657000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:28656200-28662400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:28656400-28657000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:28656600-28657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:28656600-28657400	Enhancers	Left Ventricle	heart
26	chr22:28656800-28657000	Enhancers	Fetal Lung	lung
27	chr22:28656800-28657200	Enhancers	Right Ventricle	heart
28	chr22:28656800-28666000	Weak transcription	Small Intestine	intestine

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