Variant report

Variant	rs57640377
Chromosome Location	chr4:125133026-125133027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125127035..125129952-chr4:125131141..125133207,2	MCF-7	breast:
2	chr4:125124930..125127393-chr4:125132171..125135021,2	MCF-7	breast:
3	chr4:125132533..125134622-chr4:125141190..125143971,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10001102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003066	1.00[EUR][1000 genomes]
rs10006150	1.00[EUR][1000 genomes]
rs10020359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026543	1.00[EUR][1000 genomes]
rs10027705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10031916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10035038	1.00[EUR][1000 genomes]
rs17007841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17007844	1.00[AMR][1000 genomes]
rs17007847	1.00[EUR][1000 genomes]
rs17007871	1.00[EUR][1000 genomes]
rs17007878	1.00[EUR][1000 genomes]
rs17007899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17007928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17008028	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28378981	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28384299	1.00[EUR][1000 genomes]
rs28411755	1.00[EUR][1000 genomes]
rs28489957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28738782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28787435	1.00[EUR][1000 genomes]
rs28863789	1.00[AMR][1000 genomes]
rs4392519	1.00[EUR][1000 genomes]
rs55699942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56186706	1.00[EUR][1000 genomes]
rs58290947	1.00[EUR][1000 genomes]
rs61314672	1.00[EUR][1000 genomes]
rs61455398	1.00[EUR][1000 genomes]
rs6534433	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6819102	0.90[AFR][1000 genomes]
rs6834825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6844499	1.00[EUR][1000 genomes]
rs73845303	1.00[EUR][1000 genomes]
rs73845304	1.00[EUR][1000 genomes]
rs73845306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73845313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73846846	1.00[EUR][1000 genomes]
rs73846850	1.00[EUR][1000 genomes]
rs73846855	1.00[EUR][1000 genomes]
rs73846857	1.00[EUR][1000 genomes]
rs73846858	1.00[EUR][1000 genomes]
rs7657348	1.00[EUR][1000 genomes]
rs9992719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997654	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125125600-125133800	Weak transcription	HSMM	muscle
2	chr4:125125800-125133600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:125126400-125133800	Weak transcription	HUVEC	blood vessel
4	chr4:125128600-125133800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:125128800-125133600	Weak transcription	NHDF-Ad	bronchial
6	chr4:125128800-125133600	Weak transcription	NHLF	lung
7	chr4:125128800-125134000	Weak transcription	Osteobl	bone
8	chr4:125129200-125133600	Weak transcription	Hela-S3	cervix
9	chr4:125129200-125133800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:125130400-125133600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:125131000-125133600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:125131200-125133600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:125131200-125133600	Weak transcription	Rectal Smooth Muscle	rectum

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