Variant report

Variant	rs7623063
Chromosome Location	chr3:134522593-134522594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6439522	0.86[EUR][1000 genomes]
rs73227039	0.84[ASN][1000 genomes]
rs935516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7623063	EPHB1	cis	Esophagus Mucosa	GTEx
rs7623063	EPHB1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134515800-134523600	Weak transcription	Pancreas	Pancrea
2	chr3:134517200-134526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134517400-134523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:134517600-134526200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:134518400-134526200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:134518400-134528400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:134518600-134528200	Weak transcription	Fetal Brain Female	brain
8	chr3:134518800-134524400	Weak transcription	Brain Anterior Caudate	brain
9	chr3:134519000-134529000	Weak transcription	Fetal Brain Male	brain
10	chr3:134519400-134523600	Enhancers	Dnd41	blood
11	chr3:134519600-134522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:134520200-134523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:134520400-134522600	Weak transcription	Psoas Muscle	Psoas
14	chr3:134520400-134525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:134520600-134523600	Enhancers	Fetal Thymus	thymus
16	chr3:134521200-134522800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:134521400-134522600	Enhancers	Primary T cells from cord blood	blood
18	chr3:134521400-134523400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr3:134522000-134524600	Enhancers	Fetal Muscle Leg	muscle
20	chr3:134522400-134523400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:134522400-134527800	Enhancers	GM12878-XiMat	blood

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