Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:221816826..221819415-chr1:221839496..221842221,2	MCF-7	breast:
2	chr1:221840278..221843127-chr1:221844989..221847688,2	MCF-7	breast:
3	chr1:221836329..221837894-chr1:221839108..221841311,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10449304	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118800	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11803842	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807554	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12132407	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12134883	0.82[CHB][hapmap]
rs12136282	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12136283	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12136513	0.84[ASN][1000 genomes]
rs12142693	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12728570	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095730	0.86[CHB][hapmap]
rs2176690	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672743	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6685165	0.89[ASN][1000 genomes]
rs66864883	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67079790	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68170611	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7532154	0.98[ASN][1000 genomes]
rs7540426	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221837400-221840600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:221837400-221840600	Weak transcription	Stomach Mucosa	stomach
3	chr1:221837400-221840600	Weak transcription	Hela-S3	cervix
4	chr1:221838000-221840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:221839800-221840800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:221840200-221840600	Enhancers	GM12878-XiMat	blood
7	chr1:221840400-221841400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:221840400-221841400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:221840400-221841400	Enhancers	Osteobl	bone
10	chr1:221840400-221841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:221840400-221841600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:221840400-221841600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:221840400-221841600	Enhancers	NHDF-Ad	bronchial
14	chr1:221840400-221841800	Enhancers	HMEC	breast

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