Variant report

Variant	rs4955502
Chromosome Location	chr3:134532784-134532785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1004551	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11712035	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34407968	0.83[ASN][1000 genomes]
rs4955455	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4955456	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4955501	0.97[EUR][1000 genomes]
rs6439522	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	0.86[TSI][hapmap]
rs6793917	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs935515	0.84[EUR][1000 genomes]
rs9844754	0.85[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9850491	0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4955502	EPHB1	cis	Artery Tibial	GTEx
rs4955502	ACPP	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134529600-134541800	Weak transcription	Fetal Brain Female	brain
2	chr3:134529600-134542600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:134529600-134546400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:134530000-134533400	Weak transcription	Psoas Muscle	Psoas
5	chr3:134530000-134533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:134530000-134535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:134530000-134535600	Weak transcription	GM12878-XiMat	blood
8	chr3:134530000-134540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:134530400-134534600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:134530800-134541000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:134531200-134533400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:134531200-134537800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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