Variant report

Variant	rs11971447
Chromosome Location	chr7:103168313-103168314
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]
rs2075044	0.87[EUR][1000 genomes]
rs2237623	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299332	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299334	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299335	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28716995	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779521	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808032	0.94[ASN][1000 genomes]
rs3808034	0.93[ASN][1000 genomes]
rs4140931	0.97[EUR][1000 genomes]
rs55865436	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56331323	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56992010	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58135847	0.97[EUR][1000 genomes]
rs60513369	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60546391	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73714431	0.90[EUR][1000 genomes];0.94[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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103158000-103198600	Weak transcription	Liver	Liver
2	chr7:103165000-103179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:103165200-103173000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:103165600-103169600	Weak transcription	K562	blood
5	chr7:103167200-103172800	Weak transcription	Brain Substantia Nigra	brain
6	chr7:103168000-103168400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:103168000-103168600	Strong transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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