Variant report

Variant	rs12315779
Chromosome Location	chr12:44698265-44698266
allele	A/C
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:15)

rs_ID	r²[population]
rs11182465	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182469	0.85[AMR][1000 genomes]
rs11182471	0.85[AMR][1000 genomes]
rs11182472	0.85[AMR][1000 genomes]
rs12308857	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315483	1.00[AMR][1000 genomes]
rs12316181	1.00[AMR][1000 genomes]
rs12317783	1.00[AMR][1000 genomes]
rs56380149	0.85[AMR][1000 genomes]
rs57642348	1.00[AMR][1000 genomes]
rs57855837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227263	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs717488	1.00[AMR][1000 genomes]
rs74084469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44682000-44698600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44688800-44702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:44690400-44698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:44690800-44701400	Weak transcription	Left Ventricle	heart
5	chr12:44691400-44701400	Weak transcription	Psoas Muscle	Psoas
6	chr12:44693600-44698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:44694600-44706000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:44695200-44699200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:44697800-44698400	Weak transcription	Fetal Intestine Large	intestine
10	chr12:44697800-44698800	ZNF genes & repeats	HSMMtube	muscle
11	chr12:44697800-44699000	ZNF genes & repeats	Aorta	Aorta
12	chr12:44697800-44699000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr12:44697800-44699000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr12:44697800-44699000	ZNF genes & repeats	Pancreas	Pancrea
15	chr12:44697800-44699000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr12:44698000-44698600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:44698000-44698800	ZNF genes & repeats	Liver	Liver
18	chr12:44698000-44699000	ZNF genes & repeats	Esophagus	oesophagus
19	chr12:44698200-44698400	Enhancers	Gastric	stomach
20	chr12:44698200-44699000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:44698200-44699000	ZNF genes & repeats	Ovary	ovary
22	chr12:44698200-44700000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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