Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127534536..127536383-chr5:127537068..127539513,2	K562	blood:
2	chr5:127088829..127090335-chr5:127536854..127538369,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1112956	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs152906	0.81[EUR][1000 genomes]
rs17764730	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs181850	0.80[EUR][1000 genomes]
rs185177	0.81[EUR][1000 genomes]
rs251213	0.81[EUR][1000 genomes]
rs251214	0.89[EUR][1000 genomes]
rs251216	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs251389	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251391	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251393	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2568928	1.00[MKK][hapmap]
rs36693	0.81[EUR][1000 genomes]
rs36697	0.81[EUR][1000 genomes]
rs36698	0.81[EUR][1000 genomes]
rs36700	0.81[EUR][1000 genomes]
rs36702	0.81[EUR][1000 genomes]
rs3749748	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs790154	0.91[GIH][hapmap];0.88[MKK][hapmap]
rs790155	0.91[GIH][hapmap];0.93[MKK][hapmap]

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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs251390	FBN2	cis	cerebellum	SCAN
rs251390	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127534800-127544200	Weak transcription	Left Ventricle	heart
2	chr5:127535000-127539400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:127537600-127539200	Weak transcription	HSMMtube	muscle
4	chr5:127537600-127539400	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:127537600-127539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:127537600-127549200	Weak transcription	A549	lung
7	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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