Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53557133..53558242-chr3:53585061..53585903,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1547950	0.91[ASN][1000 genomes]
rs1547951	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs17053168	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs3774428	0.85[TSI][hapmap]
rs3774439	0.86[GIH][hapmap]
rs3774441	0.87[ASN][1000 genomes]
rs3821842	0.83[JPT][hapmap]
rs9311502	1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.98[ASN][1000 genomes]

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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3774425	STAB1	cis	cerebellum	SCAN
rs3774425	DCP1A	cis	parietal	SCAN
rs3774425	GNL3	cis	cerebellum	SCAN
rs3774425	RNF123	cis	parietal	SCAN
rs3774425	NEK4	cis	parietal	SCAN
rs3774425	CACNA2D2	cis	parietal	SCAN
rs3774425	SPCS1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53540600-53560000	Weak transcription	Pancreas	Pancrea
2	chr3:53551400-53559000	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:53551400-53559800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:53552400-53568400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:53552600-53560200	Weak transcription	Lung	lung
6	chr3:53553400-53562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:53554800-53560400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:53555000-53558800	Weak transcription	Fetal Brain Male	brain
9	chr3:53555000-53559000	Strong transcription	Fetal Intestine Small	intestine
10	chr3:53555400-53558600	Strong transcription	Fetal Intestine Large	intestine
11	chr3:53555600-53559800	Weak transcription	Hela-S3	cervix
12	chr3:53556200-53558400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:53556400-53558200	Weak transcription	Fetal Lung	lung
14	chr3:53556400-53558200	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:53556800-53560800	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:53557000-53559400	Enhancers	Ovary	ovary
17	chr3:53557000-53560800	Enhancers	Fetal Stomach	stomach
18	chr3:53557200-53560200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:53557400-53558200	Enhancers	Spleen	Spleen
20	chr3:53558000-53558400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:53558000-53559200	Enhancers	Aorta	Aorta

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