Variant report

Variant	rs6508780
Chromosome Location	chr19:38752449-38752450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10993	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11880301	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11880326	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11880459	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3745948	0.81[ASN][1000 genomes]
rs59648079	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60163114	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249532	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7260295	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030303	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030307	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030308	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030309	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73030311	0.90[EUR][1000 genomes]
rs8101482	0.84[ASN][1000 genomes]
rs8111378	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8112201	0.92[EUR][1000 genomes];0.92[ASN][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38747600-38753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38747600-38754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:38748000-38753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:38748000-38753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:38748000-38753400	Weak transcription	K562	blood
6	chr19:38748000-38753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:38748000-38754400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:38749000-38754400	Weak transcription	Fetal Brain Female	brain
9	chr19:38749200-38753000	Weak transcription	A549	lung
10	chr19:38749200-38754400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:38751600-38754400	Weak transcription	NHLF	lung
12	chr19:38752200-38754600	Enhancers	Placenta	Placenta

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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