Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:150656170..150657781-chr6:150675338..150677174,2	K562	blood:
2	chr6:150401082..150403253-chr6:150656281..150658165,2	MCF-7	breast:
3	chr6:150401548..150402447-chr6:150655810..150657501,10	K562	blood:
4	chr6:150652940..150655657-chr6:150657014..150660003,2	MCF-7	breast:
5	chr6:150652538..150654492-chr6:150655790..150657493,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1112870	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055585	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737283	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1890519	0.84[AFR][1000 genomes]
rs1890520	0.85[AFR][1000 genomes]
rs2344747	0.85[AFR][1000 genomes]
rs4368826	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57892381	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583250	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs585801	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62434565	0.86[ASN][1000 genomes]
rs654694	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6557468	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656492	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6915103	0.85[AFR][1000 genomes]
rs6919940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940067	0.85[AFR][1000 genomes]
rs9371950	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9371954	0.85[AFR][1000 genomes]
rs9371955	0.81[AFR][1000 genomes]
rs9383793	0.81[AFR][1000 genomes]
rs9397886	0.83[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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2763602	chr6:150581193-150720666	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4479947	ESR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150645600-150663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150655000-150657400	Weak transcription	Stomach Mucosa	stomach
3	chr6:150655600-150657800	Enhancers	K562	blood
4	chr6:150656000-150658600	Enhancers	HMEC	breast
5	chr6:150656400-150658200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:150656400-150658600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:150656400-150658600	Enhancers	NHEK	skin
8	chr6:150657000-150658600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150657200-150657600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:150657200-150657800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:150657200-150657800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:150657200-150658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:150657200-150658400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:150657200-150658600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:150657200-150658600	Enhancers	NH-A	brain

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