Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:11230377..11232142-chr6:11422204..11424608,2	MCF-7	breast:
2	chr6:11421367..11422963-chr6:11460119..11461659,2	MCF-7	breast:
3	chr6:11420390..11423840-chr6:11426656..11428860,3	MCF-7	breast:
4	chr6:11420850..11423411-chr6:11425046..11427068,2	K562	blood:
5	chr6:11416973..11419979-chr6:11420494..11423481,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233656	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10947217	0.88[ASN][1000 genomes]
rs12664948	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17507230	0.86[ASN][1000 genomes]
rs4074864	0.93[ASN][1000 genomes]
rs4076156	0.87[EUR][1000 genomes]
rs4301302	0.87[EUR][1000 genomes]
rs4713474	0.88[ASN][1000 genomes]
rs4713475	0.88[ASN][1000 genomes]
rs4713478	0.88[ASN][1000 genomes]
rs4713507	0.88[EUR][1000 genomes]
rs55918622	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144403	0.95[ASN][1000 genomes]
rs56155385	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317766	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59349836	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61650802	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909496	0.90[EUR][1000 genomes]
rs72832932	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72832935	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72832944	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832950	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73366900	0.95[ASN][1000 genomes]
rs7740502	0.83[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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:11412600-11425600	Weak transcription	NHLF	lung
3	chr6:11415000-11425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:11416600-11423400	Weak transcription	A549	lung
5	chr6:11416600-11423600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:11417800-11426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:11419800-11423400	Weak transcription	HUVEC	blood vessel
8	chr6:11420000-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:11420200-11427400	Weak transcription	Aorta	Aorta
10	chr6:11420800-11423400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:11421800-11423600	Weak transcription	HepG2	liver

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