Variant report

Variant	rs393589
Chromosome Location	chr6:4567527-4567528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4566632..4568835-chr6:4570371..4571967,2	MCF-7	breast:
2	chr6:4566232..4568261-chr6:4571850..4574197,2	K562	blood:
3	chr6:4565116..4567008-chr6:4567329..4569157,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11754975	0.96[EUR][1000 genomes]
rs119194	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13195583	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1923318	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2223634	0.80[EUR][1000 genomes]
rs366253	0.97[EUR][1000 genomes]
rs368513	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs379512	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs415223	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs417353	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs425229	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429527	0.91[EUR][1000 genomes]
rs434509	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs435655	0.97[EUR][1000 genomes]
rs437035	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs437061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs438085	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs440354	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs441034	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs441797	0.94[EUR][1000 genomes]
rs451278	0.97[EUR][1000 genomes]
rs4960003	0.96[EUR][1000 genomes]
rs651051	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7757235	0.82[EUR][1000 genomes]
rs84995	0.97[EUR][1000 genomes]
rs84997	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9504148	0.98[EUR][1000 genomes]
rs9504149	0.84[EUR][1000 genomes]
rs9504155	0.86[EUR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4560000-4572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:4565000-4568600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:4565800-4568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:4565800-4568000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:4566000-4568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:4566000-4568400	Weak transcription	Placenta	Placenta
8	chr6:4566400-4568400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:4566400-4568400	Enhancers	NHEK	skin
10	chr6:4566600-4567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:4566800-4567800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:4566800-4568400	Enhancers	HMEC	breast
13	chr6:4566800-4569000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:4567000-4568000	Enhancers	NH-A	brain
15	chr6:4567000-4568000	Enhancers	NHDF-Ad	bronchial
16	chr6:4567000-4568000	Enhancers	Osteobl	bone
17	chr6:4567000-4568200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:4567200-4568000	Enhancers	NHLF	lung

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