Variant report

Variant	rs11971309
Chromosome Location	chr7:136712155-136712156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10954569	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11762896	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11982015	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11984039	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1424548	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1424549	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17506733	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17506977	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1991115	0.88[AFR][1000 genomes]
rs62487068	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62487071	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136700400-136717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:136711400-136717400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:136711600-136721400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136711800-136713800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:136712000-136712400	Enhancers	Left Ventricle	heart
6	chr7:136712000-136712400	Enhancers	Stomach Smooth Muscle	stomach

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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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