Variant report

Variant	rs12114156
Chromosome Location	chr8:125196269-125196270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10091262	0.92[ASN][1000 genomes]
rs10091270	0.92[ASN][1000 genomes]
rs12550247	0.92[ASN][1000 genomes]
rs12680268	0.85[ASN][1000 genomes]
rs4242360	0.85[ASN][1000 genomes]
rs6470227	0.84[ASN][1000 genomes]
rs6470230	0.86[ASN][1000 genomes]
rs6991843	0.86[ASN][1000 genomes]
rs6991906	0.92[ASN][1000 genomes]
rs7015364	0.84[ASN][1000 genomes]
rs7817281	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125190000-125198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:125191200-125196800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125193600-125196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125194400-125202200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:125194400-125203200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:125195200-125196600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125195600-125197200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:125196000-125197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:125196000-125198400	Weak transcription	A549	lung
10	chr8:125196000-125198600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:125196000-125202600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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