Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:103129355..103132565-chr7:103134493..103137999,5	K562	blood:
2	chr7:103114323..103116604-chr7:103131705..103134120,2	K562	blood:
3	chr7:103131065..103134051-chr7:103136499..103139382,2	K562	blood:
4	chr7:103130156..103132737-chr7:103133584..103135355,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10236350	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243283	0.81[ASN][1000 genomes]
rs10278964	0.89[MEX][hapmap];0.82[AMR][1000 genomes]
rs12530735	1.00[JPT][hapmap]
rs12533510	1.00[JPT][hapmap]
rs12672733	0.82[CHD][hapmap]
rs17132957	0.82[AMR][1000 genomes]
rs17143710	0.89[JPT][hapmap]
rs17151768	0.89[MEX][hapmap]
rs17152191	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152211	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075039	0.82[CHD][hapmap]
rs28773866	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906637	0.89[JPT][hapmap]
rs3808042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808044	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3823992	0.89[MEX][hapmap]
rs4286874	0.89[JPT][hapmap]
rs4470957	1.00[ASN][1000 genomes]
rs4588783	0.89[JPT][hapmap]
rs56690240	0.82[AMR][1000 genomes]
rs59613376	1.00[ASN][1000 genomes]
rs73714413	0.84[AMR][1000 genomes]
rs7797700	0.84[AMR][1000 genomes]
rs971846	0.82[AMR][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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17151558	SRPK2	cis	cerebellum	SCAN
rs17151558	MOGAT3	cis	parietal	SCAN
rs17151558	ATXN7L1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103118400-103138000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:103122800-103141000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:103129000-103134800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:103129800-103133400	Weak transcription	Stomach Mucosa	stomach
5	chr7:103130800-103135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:103130800-103155000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:103130800-103163600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:103131200-103132800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:103131200-103136200	Weak transcription	HepG2	liver
10	chr7:103131200-103137000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:103131200-103145000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:103131400-103138000	Weak transcription	K562	blood

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