Variant report

Variant	rs73008543
Chromosome Location	chr1:152899167-152899168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152841998..152842773-chr1:152898298..152899254,2	K562	blood:
2	chr1:152890396..152891373-chr1:152898442..152899195,2	MCF-7	breast:
3	chr1:152850203..152851501-chr1:152898249..152899240,5	MCF-7	breast:
4	chr1:152843341..152844548-chr1:152897786..152899223,16	MCF-7	breast:
5	chr1:152843390..152844417-chr1:152898307..152899295,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163206	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11578713	0.84[ASN][1000 genomes]
rs12733189	0.84[ASN][1000 genomes]
rs1581968	1.00[ASN][1000 genomes]
rs34529790	1.00[ASN][1000 genomes]
rs58205924	0.87[AFR][1000 genomes]
rs58483211	1.00[AFR][1000 genomes]
rs59733655	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61586803	0.87[AFR][1000 genomes]
rs61621607	0.87[AFR][1000 genomes]
rs73008539	1.00[AFR][1000 genomes]
rs73008540	1.00[AFR][1000 genomes]
rs73008542	1.00[AFR][1000 genomes]
rs73008545	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73008547	1.00[AFR][1000 genomes]
rs73008549	0.93[AFR][1000 genomes]
rs73008550	0.85[AFR][1000 genomes]
rs73008551	0.93[AFR][1000 genomes]
rs73008556	0.87[AFR][1000 genomes]
rs73008557	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73008561	0.87[AFR][1000 genomes]
rs73008569	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73008570	0.87[AFR][1000 genomes]
rs73008575	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73008578	0.87[AFR][1000 genomes]
rs73008580	0.87[AFR][1000 genomes]
rs73008582	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73008589	0.81[AFR][1000 genomes]
rs73008590	0.81[AFR][1000 genomes]
rs73008591	0.81[AFR][1000 genomes]
rs7410976	1.00[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	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv831592	chr1:152815054-152997162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv998873	chr1:152869127-152975258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152896800-152905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152897000-152901200	Weak transcription	HMEC	breast
3	chr1:152897000-152903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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