Variant report

Variant	rs28553991
Chromosome Location	chr14:80011133-80011134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10133939	0.83[AMR][1000 genomes]
rs10134623	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137124	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10138114	0.83[AMR][1000 genomes]
rs10483922	0.83[AFR][1000 genomes]
rs10483925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28484682	0.83[AMR][1000 genomes]
rs28508569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542680	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28642741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28645851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57498760	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60042400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7155119	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7155392	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324255	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341438	1.00[EUR][1000 genomes]
rs8014959	1.00[EUR][1000 genomes]
rs9805929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80005600-80011600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:80008400-80013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:80008800-80011800	Enhancers	Stomach Smooth Muscle	stomach
4	chr14:80008800-80012000	Enhancers	Osteobl	bone
5	chr14:80009400-80012000	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:80009600-80011800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:80009600-80018000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:80009800-80011200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:80009800-80011400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr14:80010000-80011200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:80010000-80012000	Enhancers	NH-A	brain
12	chr14:80010200-80011400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr14:80010200-80012800	Weak transcription	Pancreas	Pancrea
14	chr14:80010400-80015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:80010400-80018000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:80010600-80011200	Enhancers	Colon Smooth Muscle	Colon
17	chr14:80010600-80011600	Enhancers	Brain Hippocampus Middle	brain
18	chr14:80010600-80011800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:80010800-80011200	Enhancers	NHLF	lung
20	chr14:80010800-80011800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:80010800-80014000	Weak transcription	Aorta	Aorta
22	chr14:80010800-80019000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:80011000-80018800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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