Variant report

Variant	rs73108979
Chromosome Location	chr12:41088759-41088760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs73108955	0.84[AFR][1000 genomes]
rs73108972	1.00[AFR][1000 genomes]
rs73108985	0.84[AFR][1000 genomes]
rs73109002	0.84[AFR][1000 genomes]
rs73110807	0.84[AFR][1000 genomes]
rs73110822	0.84[AFR][1000 genomes]
rs73110832	0.84[AFR][1000 genomes]
rs73110834	0.84[AFR][1000 genomes]
rs73110839	0.84[AFR][1000 genomes]
rs73110845	0.84[AFR][1000 genomes]
rs73110846	0.84[AFR][1000 genomes]
rs73110850	0.84[AFR][1000 genomes]
rs73110854	0.84[AFR][1000 genomes]
rs73110855	0.84[AFR][1000 genomes]
rs73110870	0.84[AFR][1000 genomes]
rs73110872	0.84[AFR][1000 genomes]
rs73110876	0.84[AFR][1000 genomes]
rs73110880	0.84[AFR][1000 genomes]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:41087600-41091600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:41087800-41089000	Flanking Active TSS	A549	lung
3	chr12:41087800-41091400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:41088000-41088800	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:41088000-41089200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:41088000-41089200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41088000-41091400	Weak transcription	HMEC	breast
8	chr12:41088400-41090800	Weak transcription	NHEK	skin
9	chr12:41088600-41088800	Enhancers	Fetal Brain Male	brain
10	chr12:41088600-41089200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:41088600-41091400	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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