Variant report

Variant	rs6439522
Chromosome Location	chr3:134530843-134530844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4955455	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs4955456	0.81[EUR][1000 genomes]
rs4955501	0.81[EUR][1000 genomes]
rs4955502	0.82[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6439524	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6793917	0.81[EUR][1000 genomes]
rs7623063	0.86[EUR][1000 genomes]
rs935516	0.86[EUR][1000 genomes]
rs9841462	0.86[EUR][1000 genomes]
rs9844754	0.82[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][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
rs6439522	EPHB1	cis	Artery Tibial	GTEx
rs6439522	ACPP	cis	cerebellum	SCAN
rs6439522	EPHB1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134528000-134531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:134528200-134531600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:134528400-134531200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:134529600-134541800	Weak transcription	Fetal Brain Female	brain
5	chr3:134529600-134542600	Weak transcription	Brain Germinal Matrix	brain
6	chr3:134529600-134546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:134529800-134531000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:134529800-134531000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:134529800-134531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:134530000-134531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:134530000-134531400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:134530000-134531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:134530000-134533400	Weak transcription	Psoas Muscle	Psoas
14	chr3:134530000-134533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:134530000-134535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:134530000-134535600	Weak transcription	GM12878-XiMat	blood
17	chr3:134530000-134540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:134530400-134534600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:134530800-134531000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr3:134530800-134532000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:134530800-134541000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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