Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126899533..126900245-chr5:127196051..127196561,2	K562	blood:
2	chr5:127193954..127196156-chr5:127196517..127199360,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs151879	0.82[ASN][1000 genomes]
rs151880	0.83[ASN][1000 genomes]
rs151881	0.83[ASN][1000 genomes]
rs151882	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1579284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181746	0.83[ASN][1000 genomes]
rs2110358	0.87[EUR][1000 genomes]
rs2110359	0.86[EUR][1000 genomes]
rs245177	0.82[ASN][1000 genomes]
rs245178	0.82[ASN][1000 genomes]
rs245179	0.82[ASN][1000 genomes]
rs245180	0.82[ASN][1000 genomes]
rs245181	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs245186	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs245187	0.83[ASN][1000 genomes]
rs245191	0.83[ASN][1000 genomes]
rs245192	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs245193	0.83[ASN][1000 genomes]
rs245194	0.83[ASN][1000 genomes]
rs245195	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs6595795	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6874357	0.88[EUR][1000 genomes]
rs9285907	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6864687	SLC27A6	cis	parietal	SCAN
rs6864687	SLC12A2	cis	cerebellum	SCAN
rs6864687	CTXN3	cis	parietal	SCAN
rs6864687	CTXN3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127188400-127203600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:127189800-127199600	Weak transcription	Small Intestine	intestine
3	chr5:127192600-127203200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127194000-127199200	Weak transcription	Aorta	Aorta
5	chr5:127194200-127198000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:127194200-127213800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:127194400-127199000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:127194600-127199000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:127194600-127199000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:127195000-127197400	Weak transcription	HUVEC	blood vessel
11	chr5:127195200-127196600	Weak transcription	Fetal Intestine Small	intestine
12	chr5:127195600-127197000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:127195800-127202800	Weak transcription	Stomach Mucosa	stomach

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