Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53685322..53687408-chr3:53707451..53709515,2	K562	blood:
2	chr3:53708590..53712002-chr3:53712853..53715298,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1037827	0.82[EUR][1000 genomes]
rs1380606	0.89[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1401494	0.88[AMR][1000 genomes]
rs1841291	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2077167	0.82[CEU][hapmap]
rs2250736	0.93[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes]
rs2612022	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2680654	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2680656	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3774481	0.81[CEU][hapmap]
rs3774486	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3774491	0.89[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs3821854	0.82[CEU][hapmap]
rs6762231	0.82[CEU][hapmap]
rs6786135	0.89[CEU][hapmap];0.86[GIH][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs754063	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7630805	0.89[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs898415	0.89[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs898416	0.89[CEU][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs930949	0.81[EUR][1000 genomes]
rs9850569	0.81[CEU][hapmap]
rs9883910	0.81[AMR][1000 genomes];0.83[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2633707	C3orf51	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
3	chr3:53698800-53711200	Weak transcription	Spleen	Spleen
4	chr3:53700600-53709800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:53705000-53710000	Enhancers	Fetal Lung	lung
6	chr3:53705400-53710600	Strong transcription	Fetal Intestine Small	intestine
7	chr3:53706200-53710800	Strong transcription	Fetal Intestine Large	intestine
8	chr3:53706600-53709400	Enhancers	Fetal Brain Male	brain
9	chr3:53707800-53709400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr3:53708200-53713600	Weak transcription	Fetal Brain Female	brain
11	chr3:53708400-53710000	Enhancers	Fetal Heart	heart
12	chr3:53708400-53711800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:53708600-53709200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr3:53708600-53709400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:53708600-53710200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr3:53708600-53710600	Weak transcription	Fetal Kidney	kidney
17	chr3:53708800-53709200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:53708800-53709600	Enhancers	Placenta	Placenta
19	chr3:53708800-53711200	Weak transcription	Lung	lung
20	chr3:53708800-53711200	Weak transcription	Right Atrium	heart
21	chr3:53709000-53714000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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