Variant report

Variant	rs12424869
Chromosome Location	chr12:104661425-104661426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10735393	0.89[JPT][hapmap]
rs10745995	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10745996	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10778311	1.00[JPT][hapmap]
rs10778316	1.00[JPT][hapmap]
rs10778318	1.00[JPT][hapmap]
rs10861169	0.88[JPT][hapmap]
rs11111960	1.00[JPT][hapmap]
rs11111963	1.00[JPT][hapmap]
rs11112061	1.00[YRI][hapmap]
rs17035324	0.88[JPT][hapmap]
rs4129598	0.88[JPT][hapmap]
rs4246264	0.88[JPT][hapmap]
rs4388968	0.85[JPT][hapmap]
rs4406890	0.88[JPT][hapmap]
rs4475991	0.88[JPT][hapmap]
rs4545635	0.88[JPT][hapmap]
rs4614534	0.88[JPT][hapmap]
rs4964260	0.88[JPT][hapmap]
rs4964735	1.00[JPT][hapmap]
rs4964752	1.00[JPT][hapmap]
rs4964761	1.00[JPT][hapmap]
rs7132418	0.86[JPT][hapmap]
rs7138523	1.00[JPT][hapmap]
rs7294997	0.86[JPT][hapmap]
rs7301631	0.89[JPT][hapmap]
rs7313063	0.88[JPT][hapmap]
rs7314893	0.82[JPT][hapmap]
rs7342395	1.00[JPT][hapmap]
rs7975161	0.88[JPT][hapmap]

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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv983360	chr12:104658134-104664572	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104658200-104664200	Weak transcription	A549	lung
4	chr12:104658200-104665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104658200-104670000	Weak transcription	NHLF	lung
6	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:104660000-104662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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