Variant report

Variant	rs9448480
Chromosome Location	chr6:79289091-79289092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16890160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746614	1.00[EUR][1000 genomes]
rs9443576	1.00[EUR][1000 genomes]
rs9443585	1.00[EUR][1000 genomes]
rs9443595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9443596	1.00[EUR][1000 genomes]
rs9443597	1.00[EUR][1000 genomes]
rs9443598	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9448472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448481	1.00[EUR][1000 genomes]
rs9448485	1.00[EUR][1000 genomes]
rs9448486	1.00[EUR][1000 genomes]
rs9448487	1.00[EUR][1000 genomes]
rs9448488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448493	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448502	1.00[EUR][1000 genomes]
rs9448503	0.80[AFR][1000 genomes]
rs9448504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9448507	1.00[AMR][1000 genomes];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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79287600-79290600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:79288200-79289200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:79288200-79290800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:79288400-79289400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:79288400-79290400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:79288400-79304400	Weak transcription	HUVEC	blood vessel
7	chr6:79288800-79291000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:79289000-79289400	Enhancers	NHEK	skin

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