Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25634954..25637088-chr7:25637299..25639062,2	MCF-7	breast:
2	chr7:25631774..25634150-chr7:25636240..25639148,2	K562	blood:

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

rs_ID	r²[population]
rs10235801	0.96[ASN][1000 genomes]
rs10240053	0.85[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12531920	0.85[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs12534642	0.85[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12700650	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs169642	0.85[ASN][1000 genomes]
rs208544	0.85[ASN][1000 genomes]
rs208545	0.97[ASN][1000 genomes]
rs208546	0.86[ASN][1000 genomes]
rs208549	0.97[ASN][1000 genomes]
rs208555	0.85[ASN][1000 genomes]
rs208557	0.85[ASN][1000 genomes]
rs2134480	0.97[ASN][1000 genomes]
rs2188860	0.92[ASN][1000 genomes]
rs2521748	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2521751	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2813891	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2813895	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28394819	0.97[ASN][1000 genomes]
rs739623	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	esv2753823	chr7:25626156-25655093	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2813894	NPVF	cis	cerebellum	SCAN
rs2813894	FAM126A	cis	parietal	SCAN
rs2813894	TAX1BP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25635000-25638800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:25635600-25636400	Enhancers	Fetal Intestine Large	intestine
3	chr7:25635600-25636400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:25635800-25636400	Enhancers	Fetal Intestine Small	intestine
5	chr7:25635800-25636400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:25636000-25637200	Enhancers	Liver	Liver
7	chr7:25636200-25636400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:25636200-25636400	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:25636200-25636600	Enhancers	Sigmoid Colon	Sigmoid Colon

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