Variant report

Variant	rs73227043
Chromosome Location	chr3:134526252-134526253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134524382..134526892-chr3:134533040..134534837,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17695812	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227039	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73227041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73227044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818551	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73227043	EPHB1	cis	Esophagus Mucosa	GTEx
rs73227043	EPHB1	cis	Esophagus Muscularis	GTEx
rs73227043	EPHB1	cis	Artery Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134517200-134526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:134518400-134528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:134518600-134528200	Weak transcription	Fetal Brain Female	brain
4	chr3:134519000-134529000	Weak transcription	Fetal Brain Male	brain
5	chr3:134522400-134527800	Enhancers	GM12878-XiMat	blood
6	chr3:134523600-134527200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:134523800-134528400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:134523800-134529800	Weak transcription	Pancreas	Pancrea
9	chr3:134524400-134526400	Enhancers	Brain Anterior Caudate	brain
10	chr3:134524600-134528600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:134524600-134528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:134524600-134530600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:134524800-134526600	Weak transcription	Psoas Muscle	Psoas
14	chr3:134525200-134527800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:134525200-134528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:134525400-134529800	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:134525600-134527200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:134526200-134527000	Enhancers	Brain Hippocampus Middle	brain
19	chr3:134526200-134528000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:134526200-134528400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:134526200-134528400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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