Variant report

Variant	rs12445147
Chromosome Location	chr16:80777638-80777639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10514509	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11150309	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11150310	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641163	0.86[EUR][1000 genomes]
rs11644231	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11647695	0.80[EUR][1000 genomes]
rs11648014	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12444479	0.84[EUR][1000 genomes]
rs12597342	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17754079	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17754097	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17826881	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17826989	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7186034	0.84[EUR][1000 genomes]
rs72807937	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8045164	0.81[ASN][1000 genomes]
rs9937518	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1851516	chr16:80766198-80813696	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80767400-80785000	Weak transcription	Placenta	Placenta
2	chr16:80767600-80785200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80770200-80785000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:80774000-80778600	Weak transcription	Esophagus	oesophagus
5	chr16:80774000-80782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:80774200-80778400	Weak transcription	HSMMtube	muscle
7	chr16:80774200-80781400	Weak transcription	Lung	lung
8	chr16:80774200-80781400	Weak transcription	Pancreas	Pancrea
9	chr16:80774200-80785600	Weak transcription	Fetal Intestine Small	intestine
10	chr16:80774400-80778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:80774800-80779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:80775200-80778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:80775400-80778200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:80775400-80779000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:80775800-80785000	Weak transcription	Liver	Liver
16	chr16:80776200-80779600	Weak transcription	Adipose Nuclei	Adipose
17	chr16:80776200-80779800	Weak transcription	Brain Angular Gyrus	brain
18	chr16:80776800-80778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:80776800-80778800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:80776800-80785600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:80777200-80778000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:80777400-80778200	Enhancers	Hela-S3	cervix
23	chr16:80777400-80778200	Enhancers	HSMM	muscle
24	chr16:80777400-80778200	Enhancers	NHEK	skin

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