Variant report

Variant	rs16947317
Chromosome Location	chr12:117566414-117566415
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10850770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068349	1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230542	1.00[EUR][1000 genomes]
rs12312388	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825101	1.00[MEX][hapmap]

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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
3	esv3415031	chr12:117562369-117568367	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3428816	chr12:117562469-117568067	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3390043	chr12:117562869-117568067	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117563200-117567800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:117563600-117568200	Weak transcription	Placenta	Placenta
5	chr12:117564000-117566800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:117564200-117571800	Weak transcription	Fetal Brain Male	brain
7	chr12:117564600-117568000	Weak transcription	Fetal Heart	heart
8	chr12:117565600-117566800	ZNF genes & repeats	Pancreas	Pancrea
9	chr12:117565800-117566800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:117565800-117566800	Strong transcription	Brain Substantia Nigra	brain
11	chr12:117565800-117566800	ZNF genes & repeats	Fetal Kidney	kidney
12	chr12:117565800-117566800	ZNF genes & repeats	Gastric	stomach
13	chr12:117566000-117566800	ZNF genes & repeats	Fetal Lung	lung
14	chr12:117566400-117582200	Weak transcription	H9 Cell Line	embryonic stem cell

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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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