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:21)

rs_ID	r²[population]
rs11973587	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs11973605	0.90[CHD][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap]
rs11973620	0.81[JPT][hapmap]
rs11973866	0.80[ASN][1000 genomes]
rs11978307	0.82[ASN][1000 genomes]
rs12667261	0.91[ASN][1000 genomes]
rs12669889	0.81[JPT][hapmap]
rs12670768	0.82[CHD][hapmap]
rs1502948	0.87[ASN][1000 genomes]
rs16873895	0.82[CHD][hapmap]
rs17151904	0.81[JPT][hapmap]
rs17151997	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17152030	0.86[ASN][1000 genomes]
rs17152036	0.86[ASN][1000 genomes]
rs17152054	0.80[ASN][1000 genomes]
rs17152061	0.80[ASN][1000 genomes]
rs1882526	0.93[ASN][1000 genomes]
rs2134479	0.83[ASN][1000 genomes]
rs2960821	0.82[CHD][hapmap]
rs62454635	0.86[ASN][1000 genomes]
rs73085996	0.80[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1995438	NPVF	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25635000-25638800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:25636400-25640600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:25636400-25642200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:25636400-25642600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:25636600-25642600	Weak transcription	Fetal Stomach	stomach
6	chr7:25637000-25638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:25637400-25638600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:25637400-25642800	Weak transcription	Aorta	Aorta
9	chr7:25637600-25638600	Enhancers	Small Intestine	intestine
10	chr7:25637600-25638800	Enhancers	Liver	Liver
11	chr7:25638400-25638600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:25638400-25638800	Enhancers	Left Ventricle	heart
13	chr7:25638400-25638800	Enhancers	Pancreas	Pancrea

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