Variant report

Variant	rs9448502
Chromosome Location	chr6:79309728-79309729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79307983..79310728-chr6:79313328..79314875,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16890160	1.00[EUR][1000 genomes]
rs7746614	1.00[EUR][1000 genomes]
rs9443576	1.00[EUR][1000 genomes]
rs9443585	1.00[EUR][1000 genomes]
rs9443595	1.00[EUR][1000 genomes]
rs9443596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9443597	1.00[EUR][1000 genomes]
rs9443598	1.00[EUR][1000 genomes]
rs9443605	1.00[EUR][1000 genomes]
rs9448429	1.00[EUR][1000 genomes]
rs9448438	1.00[EUR][1000 genomes]
rs9448441	1.00[EUR][1000 genomes]
rs9448471	1.00[EUR][1000 genomes]
rs9448472	1.00[EUR][1000 genomes]
rs9448473	1.00[EUR][1000 genomes]
rs9448475	1.00[EUR][1000 genomes]
rs9448480	1.00[EUR][1000 genomes]
rs9448481	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448485	1.00[EUR][1000 genomes]
rs9448486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448487	1.00[EUR][1000 genomes]
rs9448488	1.00[EUR][1000 genomes]
rs9448504	1.00[EUR][1000 genomes]
rs9448507	1.00[EUR][1000 genomes]
rs9448509	1.00[EUR][1000 genomes]
rs9448510	1.00[EUR][1000 genomes]
rs9448511	1.00[EUR][1000 genomes]
rs9448512	1.00[EUR][1000 genomes]
rs9448513	1.00[EUR][1000 genomes]
rs9448517	1.00[EUR][1000 genomes]
rs9448533	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886235	chr6:78861808-79369972	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv604011	chr6:79042990-79455282	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886300	chr6:79129963-79341891	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv522646	chr6:79185106-79333988	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1028767	chr6:79200713-79341224	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9448502	BRP44L	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79307400-79309800	Enhancers	NH-A	brain
2	chr6:79307400-79310000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:79307400-79310000	Enhancers	HMEC	breast
4	chr6:79307400-79310000	Enhancers	NHLF	lung
5	chr6:79307400-79310600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:79307400-79310800	Enhancers	NHEK	skin
7	chr6:79307600-79310800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:79307600-79311200	Enhancers	HUVEC	blood vessel
9	chr6:79307800-79309800	Enhancers	A549	lung
10	chr6:79307800-79310000	Enhancers	Hela-S3	cervix
11	chr6:79308000-79309800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:79308000-79309800	Enhancers	Osteobl	bone
13	chr6:79308200-79309800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:79308200-79310200	Enhancers	NHDF-Ad	bronchial
15	chr6:79309200-79310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:79309400-79309800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:79309400-79309800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:79309400-79309800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:79309400-79309800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:79309400-79310000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:79309400-79310800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:79309600-79309800	Enhancers	Aorta	Aorta
23	chr6:79309600-79315000	Weak transcription	HSMM	muscle

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