Variant report

Variant	rs57516973
Chromosome Location	chr4:75142078-75142079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75141689-75142478	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75141515..75143293-chr4:75143441..75145277,2	K562	blood:
2	chr4:75141137..75144749-chr4:75154918..75158355,4	K562	blood:

Variant related genes	Relation type
MTHFD2L	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1460005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850793	1.00[EUR][1000 genomes]
rs16850798	1.00[EUR][1000 genomes]
rs16850813	1.00[EUR][1000 genomes]
rs16850818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850842	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850933	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850945	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56192801	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58215609	1.00[EUR][1000 genomes]
rs58398242	1.00[EUR][1000 genomes]
rs59142088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172186	1.00[EUR][1000 genomes]
rs59175703	1.00[EUR][1000 genomes]
rs60181583	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60560556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61119489	1.00[EUR][1000 genomes]
rs6830535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824433	1.00[EUR][1000 genomes]
rs73824435	1.00[EUR][1000 genomes]
rs73824446	1.00[EUR][1000 genomes]
rs73824447	1.00[EUR][1000 genomes]
rs73824448	1.00[EUR][1000 genomes]
rs73824449	1.00[EUR][1000 genomes]
rs73824453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824458	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922136	1.00[EUR][1000 genomes]
rs9685225	1.00[EUR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75119800-75148800	Weak transcription	Aorta	Aorta
2	chr4:75125200-75142600	Weak transcription	K562	blood
3	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart
4	chr4:75132200-75157800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:75133800-75160000	Weak transcription	Liver	Liver
6	chr4:75134000-75173800	Weak transcription	Primary T cells from cord blood	blood
7	chr4:75134400-75148800	Weak transcription	HSMM	muscle
8	chr4:75134600-75148400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:75134800-75148200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:75134800-75148200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:75134800-75148800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:75135000-75147600	Weak transcription	HMEC	breast
13	chr4:75135600-75143000	Weak transcription	NHEK	skin
14	chr4:75139600-75147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:75140200-75144800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:75140200-75146000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:75141200-75147200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr4:75141800-75151200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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