Variant report

Variant	rs73354224
Chromosome Location	chr12:75834426-75834427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58094166	1.00[AFR][1000 genomes]
rs73354215	1.00[AFR][1000 genomes]
rs73354219	1.00[AFR][1000 genomes]
rs73354240	0.91[AFR][1000 genomes]
rs73354244	0.83[AFR][1000 genomes]
rs73354247	0.83[AFR][1000 genomes]
rs73354251	0.83[AFR][1000 genomes]
rs73354273	0.83[AFR][1000 genomes]
rs73370055	1.00[AFR][1000 genomes]
rs73370063	0.85[AFR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75831400-75834800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:75832200-75838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:75832400-75840000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:75832600-75838000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:75832800-75838200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:75833000-75834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:75833200-75837400	Weak transcription	HMEC	breast
8	chr12:75833600-75835400	Weak transcription	Fetal Thymus	thymus
9	chr12:75833600-75837600	Weak transcription	NHLF	lung
10	chr12:75833800-75834800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:75834200-75834600	Weak transcription	Dnd41	blood
12	chr12:75834400-75837200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:75834400-75837200	Weak transcription	NHDF-Ad	bronchial
14	chr12:75834400-75837200	Weak transcription	Osteobl	bone

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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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