Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:223527067..223530000-chr1:223534908..223536771,2	K562	blood:
2	chr1:223528181..223530000-chr1:223535151..223536771,2	K562	blood:
3	chr1:223519202..223521587-chr1:223525632..223530010,3	MCF-7	breast:
4	chr1:223386672..223389352-chr1:223528747..223530917,2	MCF-7	breast:
5	chr1:223528933..223533041-chr1:223533611..223537910,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10907375	0.94[EUR][1000 genomes]
rs11261265	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11488548	0.82[AMR][1000 genomes]
rs1400964	0.94[EUR][1000 genomes]
rs1547789	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162005	0.94[EUR][1000 genomes]
rs17163834	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163836	0.94[EUR][1000 genomes]
rs1914612	0.94[EUR][1000 genomes]
rs2282399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501982	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28788929	0.87[EUR][1000 genomes]
rs28897212	0.94[EUR][1000 genomes]
rs34572097	0.85[AMR][1000 genomes]
rs35345617	0.94[EUR][1000 genomes]
rs35727959	0.88[EUR][1000 genomes]
rs35736338	0.94[EUR][1000 genomes]
rs41460051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604707	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661314	0.94[EUR][1000 genomes]
rs6700523	0.94[EUR][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	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223514400-223535800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:223526600-223530200	Weak transcription	Esophagus	oesophagus
3	chr1:223526600-223534000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:223528000-223535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:223528000-223536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:223528200-223530000	Enhancers	NHEK	skin
7	chr1:223528600-223530600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:223528600-223530600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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