Variant report

Variant	rs5753348
Chromosome Location	chr22:31252038-31252039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13055067	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57084031	0.95[ASN][1000 genomes]
rs5749169	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749171	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749173	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753334	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753335	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753336	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753337	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753340	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753341	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57707485	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61049226	0.97[ASN][1000 genomes]
rs62235916	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62235942	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742205	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv914973	chr22:31232074-31264281	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv524629	chr22:31245745-31254954	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv914974	chr22:31249333-31279536	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31249200-31256400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:31249400-31259000	Weak transcription	HSMM	muscle
3	chr22:31251000-31252200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr22:31251200-31253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31251400-31252200	Enhancers	Psoas Muscle	Psoas
6	chr22:31251400-31252400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:31251600-31252200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31251600-31256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:31251800-31252400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr22:31251800-31252400	Enhancers	NHEK	skin
11	chr22:31251800-31264200	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:31252000-31252200	Enhancers	Brain Hippocampus Middle	brain
13	chr22:31252000-31252200	Enhancers	Fetal Muscle Trunk	muscle
14	chr22:31252000-31252400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr22:31252000-31253400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:31252000-31255000	Weak transcription	Hela-S3	cervix
17	chr22:31252000-31256600	Weak transcription	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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