Variant report

Variant	rs5749171
Chromosome Location	chr22:31224575-31224576
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	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13055067	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136232	0.95[ASN][1000 genomes]
rs136233	0.81[ASN][1000 genomes]
rs57084031	0.80[ASN][1000 genomes]
rs5749166	0.82[EUR][1000 genomes]
rs5749167	0.83[ASN][1000 genomes]
rs5749169	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749173	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753335	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753336	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753337	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753340	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753341	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753348	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57707485	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61049226	0.83[ASN][1000 genomes]
rs62235916	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62235942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr22:31219000-31224600	Weak transcription	HSMMtube	muscle
2	chr22:31219200-31224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31219200-31224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31219200-31225800	Weak transcription	Gastric	stomach
5	chr22:31221000-31224600	Weak transcription	Spleen	Spleen
6	chr22:31221600-31227200	Enhancers	Brain Angular Gyrus	brain
7	chr22:31221800-31226000	Weak transcription	Brain Anterior Caudate	brain
8	chr22:31222000-31226000	Weak transcription	Brain Substantia Nigra	brain
9	chr22:31222400-31225600	Enhancers	A549	lung
10	chr22:31222400-31226000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:31222400-31226200	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:31222600-31224600	Genic enhancers	NHEK	skin
13	chr22:31222600-31225800	Weak transcription	Esophagus	oesophagus
14	chr22:31222600-31227000	Weak transcription	Pancreas	Pancrea
15	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr22:31223400-31225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:31223800-31224800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31224000-31224600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:31224000-31225200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:31224000-31226400	Enhancers	Hela-S3	cervix
21	chr22:31224200-31225000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:31224200-31225000	Enhancers	HSMM	muscle
23	chr22:31224400-31224800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:31224400-31225000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:31224400-31227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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