Variant report

Variant	rs36218
Chromosome Location	chr3:134626339-134626340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1007557	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1457554	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1992870	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36200	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36201	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36202	0.83[ASN][1000 genomes]
rs36203	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36207	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36208	0.87[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36211	0.87[CEU][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36212	0.87[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs39705	0.91[ASN][1000 genomes]
rs59709055	0.87[ASN][1000 genomes]
rs658459	0.80[ASN][1000 genomes]
rs7651682	0.84[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv822262	chr3:134623349-134628638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv460859	chr3:134626339-134645710	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36218	EPHB1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134624400-134626600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:134624400-134629400	Weak transcription	Brain Anterior Caudate	brain
3	chr3:134624400-134630000	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:134624600-134626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:134624600-134626800	Weak transcription	Fetal Stomach	stomach
6	chr3:134624600-134627400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:134624600-134629400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:134624600-134629800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:134624600-134634200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:134624800-134629800	Weak transcription	Fetal Brain Female	brain
11	chr3:134624800-134631800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:134625800-134626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:134625800-134627000	Weak transcription	Brain Germinal Matrix	brain
14	chr3:134626200-134627600	Enhancers	Fetal Brain Male	brain
15	chr3:134626200-134628000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:134626200-134631000	Weak transcription	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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