Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127263364..127266213-chr5:127293562..127295793,3	MCF-7	breast:
2	chr5:127261908..127263560-chr5:127300086..127302066,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10050374	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057561	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064559	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10068883	1.00[ASN][1000 genomes]
rs10213776	1.00[ASN][1000 genomes]
rs10900794	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs11738398	0.88[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs11741283	0.82[EUR][1000 genomes]
rs12517005	0.82[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs13160751	0.92[EUR][1000 genomes]
rs2011576	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2409037	0.82[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4836346	0.92[EUR][1000 genomes]
rs4836348	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55896045	0.82[EUR][1000 genomes]
rs6595796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6871743	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877403	0.83[EUR][1000 genomes]
rs6889756	0.88[CEU][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs758181	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706518	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7717741	0.88[CEU][hapmap];0.84[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs7726011	1.00[ASN][1000 genomes]
rs9327463	1.00[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4836344	SLC12A2	cis	cerebellum	SCAN
rs4836344	CDC42SE2	cis	cerebellum	SCAN
rs4836344	SLC27A6	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
2	chr5:127258400-127266400	Weak transcription	Gastric	stomach
3	chr5:127258400-127266400	Weak transcription	Pancreas	Pancrea
4	chr5:127260600-127265600	Weak transcription	HUVEC	blood vessel
5	chr5:127261200-127266000	Weak transcription	HSMMtube	muscle
6	chr5:127261800-127266000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:127261800-127266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:127261800-127270200	Weak transcription	NHEK	skin
9	chr5:127262000-127266200	Weak transcription	Hela-S3	cervix
10	chr5:127262200-127265400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:127262200-127266000	Weak transcription	HMEC	breast
12	chr5:127262400-127263800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:127262400-127265400	Weak transcription	A549	lung
14	chr5:127262600-127263800	Weak transcription	Stomach Mucosa	stomach
15	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine

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