Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24112072..24114906-chr20:24115605..24118020,3	MCF-7	breast:
2	chr20:24115388..24117970-chr20:24118371..24122645,4	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1006194	0.84[EUR][1000 genomes]
rs1123671	0.83[EUR][1000 genomes]
rs11696686	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11699743	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs12480224	0.81[EUR][1000 genomes]
rs1555286	0.90[ASN][1000 genomes]
rs2224232	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35663453	0.83[EUR][1000 genomes]
rs35815769	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6114487	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6114488	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6114489	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6132700	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6138209	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61657263	0.81[EUR][1000 genomes]
rs7262390	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761863	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761864	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs910776	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2755330	chr20:24114903-24130700	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6138214	INSM1	cis	parietal	SCAN
rs6138214	CST3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24111000-24117200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr20:24111400-24117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24111400-24120400	Enhancers	Placenta	Placenta
4	chr20:24111600-24119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:24111800-24116400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:24113000-24117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:24113200-24116000	Enhancers	NHEK	skin
8	chr20:24114800-24119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:24115000-24116000	Weak transcription	Right Atrium	heart
10	chr20:24115200-24116000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr20:24115600-24116800	Weak transcription	Esophagus	oesophagus
12	chr20:24115600-24117400	Weak transcription	HMEC	breast
13	chr20:24115600-24119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:24115800-24119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:24115800-24121200	Weak transcription	Pancreas	Pancrea

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