Variant report

Variant	rs12448881
Chromosome Location	chr16:79809014-79809015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11860057	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13337701	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13337703	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13338008	0.89[EUR][1000 genomes]
rs13338235	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16951312	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16951359	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28536718	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243180	0.83[ASN][1000 genomes]
rs4296269	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4302049	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4316769	0.83[ASN][1000 genomes]
rs4319779	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4319782	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4372706	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4470160	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4474702	0.87[ASN][1000 genomes]
rs4528586	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4547344	0.91[EUR][1000 genomes]
rs4567730	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4567731	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4603571	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4614737	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4632146	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4633733	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4889024	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4889026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59100419	0.81[ASN][1000 genomes]
rs59680118	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60153062	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62041321	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041342	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62041343	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564697	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564698	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564702	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564703	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6564704	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66616635	0.85[ASN][1000 genomes]
rs67364537	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7187216	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7188433	0.82[ASN][1000 genomes]
rs7190102	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7199398	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7200937	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7202532	0.82[ASN][1000 genomes]
rs7205712	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73572226	0.87[ASN][1000 genomes]
rs8052982	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8053230	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8057083	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8060072	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8062324	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8063650	0.91[EUR][1000 genomes]
rs9673780	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9922033	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9925997	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9927594	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9927598	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9928163	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9929497	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9931431	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9936175	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9936192	0.84[EUR][1000 genomes]
rs9936261	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9939090	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9939565	0.91[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12448881	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79805000-79809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:79805000-79809400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:79805000-79810400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:79805200-79809200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:79805200-79809200	Weak transcription	HMEC	breast
6	chr16:79805200-79810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:79805200-79810200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:79805200-79810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:79805200-79810200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:79805200-79810200	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:79805200-79810200	Weak transcription	NH-A	brain
12	chr16:79805400-79809400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:79805400-79810200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:79805400-79810200	Weak transcription	Adipose Nuclei	Adipose
15	chr16:79805400-79810200	Weak transcription	Thymus	Thymus
16	chr16:79805400-79810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:79805400-79810400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:79805600-79810400	Weak transcription	Colonic Mucosa	Colon
19	chr16:79806000-79810200	Weak transcription	Fetal Thymus	thymus
20	chr16:79806000-79810400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:79806200-79810200	Weak transcription	Fetal Kidney	kidney
22	chr16:79806200-79810400	Weak transcription	K562	blood
23	chr16:79806400-79810200	Weak transcription	Fetal Lung	lung
24	chr16:79806600-79809600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr16:79806600-79810200	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:79806800-79810200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:79807000-79809200	Weak transcription	Small Intestine	intestine
28	chr16:79807000-79810200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:79807400-79810200	Weak transcription	Fetal Intestine Small	intestine
30	chr16:79807800-79810200	Weak transcription	Fetal Intestine Large	intestine
31	chr16:79808000-79810200	Weak transcription	Fetal Stomach	stomach
32	chr16:79808200-79810200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:79808600-79811000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr16:79808800-79810000	Enhancers	Esophagus	oesophagus
35	chr16:79809000-79810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:79809000-79810600	Enhancers	NHEK	skin

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