Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:4585100..4587117-chr6:4590950..4593024,2	K562	blood:
2	chr6:4585781..4587336-chr6:4587498..4589697,3	K562	blood:
3	chr6:4585158..4587342-chr6:4603749..4606503,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13201590	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2235725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326529	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2875952	0.90[EUR][1000 genomes]
rs34795311	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35306133	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3748077	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs3812185	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6597082	1.00[CEU][hapmap]
rs6920804	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71547273	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71555852	0.87[ASN][1000 genomes]
rs7739453	0.87[ASN][1000 genomes]
rs7771456	0.98[EUR][1000 genomes]
rs9791204	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4581800-4590000	Enhancers	Placenta	Placenta
2	chr6:4582400-4595400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:4582600-4587600	Weak transcription	Left Ventricle	heart
4	chr6:4582800-4587000	Weak transcription	Aorta	Aorta
5	chr6:4583600-4589000	Weak transcription	Esophagus	oesophagus
6	chr6:4584400-4593800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:4585000-4588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:4585600-4586800	Enhancers	Fetal Heart	heart
9	chr6:4585800-4587400	Enhancers	HSMMtube	muscle
10	chr6:4585800-4588000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:4586000-4587600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:4586200-4587200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:4586200-4587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:4586200-4587400	Enhancers	HMEC	breast
15	chr6:4586200-4587400	Enhancers	NHEK	skin
16	chr6:4586200-4587600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:4586200-4588400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:4586400-4586800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:4586400-4586800	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:4586400-4586800	Enhancers	Brain Hippocampus Middle	brain

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