Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10054780	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1035407	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1603409	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs173520	0.84[ASN][1000 genomes]
rs189687	0.88[ASN][1000 genomes]
rs2012809	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2079100	0.85[MEX][hapmap]
rs2259002	0.85[JPT][hapmap]
rs247095	0.88[ASN][1000 genomes]
rs247097	0.88[ASN][1000 genomes]
rs247099	0.88[ASN][1000 genomes]
rs247100	0.88[ASN][1000 genomes]
rs247209	0.84[ASN][1000 genomes]
rs2522382	0.85[JPT][hapmap]
rs2522384	0.85[JPT][hapmap]
rs2545018	0.85[JPT][hapmap];0.85[MEX][hapmap]
rs2545019	0.85[JPT][hapmap]
rs2545023	0.85[JPT][hapmap]
rs2577469	0.85[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap]
rs4835959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836402	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595859	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714784	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1422443	KIF3A	cis	parietal	SCAN
rs1422443	C5orf48	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128114200-128117800	Weak transcription	Fetal Stomach	stomach
2	chr5:128114600-128117600	Weak transcription	HUVEC	blood vessel
3	chr5:128114600-128117600	Weak transcription	NH-A	brain
4	chr5:128114600-128117800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:128114800-128117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:128115000-128117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:128115000-128117400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:128115400-128117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:128115400-128117600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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