Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:150652940..150655657-chr6:150657014..150660003,2	MCF-7	breast:
2	chr6:150644840..150646705-chr6:150652961..150654511,2	K562	blood:
3	chr6:150652538..150654492-chr6:150655790..150657493,2	K562	blood:
4	chr6:150404252..150405212-chr6:150654023..150654852,2	MCF-7	breast:
5	chr6:150400447..150403376-chr6:150651283..150654200,2	K562	blood:

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

rs_ID	r²[population]
rs1112870	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12055585	0.86[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1591830	0.95[CHB][hapmap];0.80[CHD][hapmap];0.82[ASN][1000 genomes]
rs1737283	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4368826	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4479947	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57111320	0.87[ASN][1000 genomes]
rs57892381	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58111791	0.86[EUR][1000 genomes]
rs583250	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs585801	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs597663	0.85[EUR][1000 genomes]
rs599456	0.86[EUR][1000 genomes]
rs654694	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6557468	0.83[EUR][1000 genomes]
rs656492	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs683810	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6919940	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9384387	0.83[CHB][hapmap]
rs9397277	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs9397886	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv3443867	chr6:150651959-150656557	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3337133	chr6:150652759-150655857	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3410509	chr6:150652759-150655957	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3448259	chr6:150652759-150655957	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9371950	ESR1	cis	cerebellum	SCAN

Chromatin state (count:6 , 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	chr6:150649000-150656600	Weak transcription	Right Atrium	heart
3	chr6:150653800-150654200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:150653800-150654800	Enhancers	Pancreas	Pancrea
5	chr6:150653800-150655200	Enhancers	K562	blood
6	chr6:150654000-150654600	Weak transcription	Esophagus	oesophagus

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