Variant report

Variant	rs7770365
Chromosome Location	chr6:48712705-48712706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10498777	0.81[ASN][1000 genomes]
rs10807396	1.00[ASN][1000 genomes]
rs11962463	0.81[ASN][1000 genomes]
rs11967676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11969582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877973	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878200	0.81[ASN][1000 genomes]
rs17289986	0.81[ASN][1000 genomes]
rs2474494	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2495920	1.00[ASN][1000 genomes]
rs4144036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715097	1.00[ASN][1000 genomes]
rs55683183	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56204989	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975981	0.81[ASN][1000 genomes]
rs57262789	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59704925	0.81[ASN][1000 genomes]
rs6900138	0.81[ASN][1000 genomes]
rs6907997	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6914646	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935064	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869027	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869031	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869034	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72869036	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869077	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72869083	0.90[ASN][1000 genomes]
rs72869092	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72870818	0.81[ASN][1000 genomes]
rs72870857	0.81[ASN][1000 genomes]
rs72870893	0.81[ASN][1000 genomes]
rs72870898	0.81[ASN][1000 genomes]
rs72870901	0.81[ASN][1000 genomes]
rs72872305	0.81[ASN][1000 genomes]
rs72872308	0.81[ASN][1000 genomes]
rs72872314	0.81[ASN][1000 genomes]
rs72872343	0.81[ASN][1000 genomes]
rs72872348	0.81[ASN][1000 genomes]
rs72872354	0.81[ASN][1000 genomes]
rs72872357	0.81[ASN][1000 genomes]
rs72872364	0.81[ASN][1000 genomes]
rs72872366	0.81[ASN][1000 genomes]
rs72872368	0.81[ASN][1000 genomes]
rs7767482	0.81[ASN][1000 genomes]
rs7771117	1.00[ASN][1000 genomes]
rs9381691	1.00[ASN][1000 genomes]
rs9395402	1.00[ASN][1000 genomes]
rs9395405	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9463440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9473472	1.00[ASN][1000 genomes]
rs9473474	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752125	chr6:48575963-48718589	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1034217	chr6:48601590-48714176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1015258	chr6:48607583-48714176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv885879	chr6:48634956-48730669	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48687600-48715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48711200-48713400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:48712200-48712800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:48712200-48712800	Enhancers	NHLF	lung
5	chr6:48712200-48713000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:48712200-48713000	Enhancers	Hela-S3	cervix
7	chr6:48712400-48712800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:48712400-48712800	Enhancers	NHEK	skin
9	chr6:48712400-48713000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:48712400-48713000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:48712400-48713000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:48712400-48715000	Weak transcription	Osteobl	bone
13	chr6:48712600-48713000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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