Variant report

Variant	rs6416688
Chromosome Location	chr16:65097523-65097524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10852420	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12708870	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12708871	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12925656	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1402017	0.93[EUR][1000 genomes]
rs1879261	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1915116	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs257338	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs257488	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs257491	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35194	0.85[AMR][1000 genomes]
rs35196	0.87[AMR][1000 genomes]
rs35211	0.87[AMR][1000 genomes]
rs40114	0.81[AMR][1000 genomes]
rs6416687	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498969	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498970	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498971	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6498975	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6498977	0.96[EUR][1000 genomes]
rs7191190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7404112	0.94[EUR][1000 genomes]
rs7404568	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7498207	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7498373	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7499444	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7500159	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7500420	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7500476	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7500503	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8051995	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8054252	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9746754	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9921084	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1831	chr16:65071976-65106105	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:65087800-65100600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:65087800-65102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
8	chr16:65088200-65101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:65089400-65098000	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:65089400-65101200	Weak transcription	Fetal Brain Male	brain
11	chr16:65090400-65099800	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:65091400-65097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:65092000-65097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:65092000-65098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:65092200-65102600	Enhancers	Brain Angular Gyrus	brain
16	chr16:65093400-65099800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr16:65093800-65097800	Weak transcription	Fetal Stomach	stomach
18	chr16:65093800-65103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:65094000-65100200	Enhancers	Brain Anterior Caudate	brain
20	chr16:65094000-65100200	Enhancers	Brain Substantia Nigra	brain
21	chr16:65094200-65099800	Enhancers	Brain Hippocampus Middle	brain
22	chr16:65094600-65098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:65094600-65101200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:65094800-65097600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:65095000-65097800	Weak transcription	Spleen	Spleen
26	chr16:65095000-65113400	Weak transcription	Lung	lung
27	chr16:65095400-65097800	Enhancers	NHLF	lung
28	chr16:65095800-65097800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
30	chr16:65096200-65097800	Enhancers	Ovary	ovary
31	chr16:65096200-65101600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:65096200-65104800	Weak transcription	Fetal Kidney	kidney
33	chr16:65096400-65097600	Weak transcription	HSMM	muscle
34	chr16:65096400-65097600	Weak transcription	NHDF-Ad	bronchial
35	chr16:65096600-65101400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:65096800-65097800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:65096800-65100000	Weak transcription	Colon Smooth Muscle	Colon
38	chr16:65096800-65100800	Weak transcription	Fetal Brain Female	brain
39	chr16:65097000-65097800	Weak transcription	NH-A	brain
40	chr16:65097000-65098600	Strong transcription	HSMMtube	muscle
41	chr16:65097000-65100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:65097000-65101200	Weak transcription	Brain Germinal Matrix	brain
43	chr16:65097200-65098200	Genic enhancers	Osteobl	bone
44	chr16:65097200-65100200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:65097200-65101400	Genic enhancers	Fetal Lung	lung
46	chr16:65097200-65102000	Weak transcription	Muscle Satellite Cultured Cells	--

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