Variant report

Variant	rs8048429
Chromosome Location	chr16:65044919-65044920
allele	G/T
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:16)

rs_ID	r²[population]
rs10500506	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11866929	0.81[AFR][1000 genomes]
rs16968351	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16968359	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56167561	0.80[EUR][1000 genomes]
rs58403970	0.83[AFR][1000 genomes]
rs6498967	0.85[AFR][1000 genomes]
rs7192855	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7192859	0.87[AFR][1000 genomes]
rs7198314	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74026211	0.85[AFR][1000 genomes]
rs74026226	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74026228	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74026230	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8050117	0.82[AFR][1000 genomes]
rs8057316	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:65025800-65051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:65036000-65051400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr16:65039000-65061200	Weak transcription	Aorta	Aorta
5	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
6	chr16:65039200-65068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:65039400-65050800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:65039600-65045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:65039600-65049000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:65039600-65079800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr16:65039800-65057400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:65040000-65049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:65040200-65045800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:65040400-65049800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:65040600-65045800	Weak transcription	HSMMtube	muscle
16	chr16:65040600-65086000	Weak transcription	HMEC	breast
17	chr16:65041000-65045600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:65041000-65045800	Weak transcription	Ovary	ovary
19	chr16:65041000-65059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:65041200-65072400	Weak transcription	Fetal Kidney	kidney
21	chr16:65041400-65045800	Weak transcription	HSMM	muscle
22	chr16:65041400-65045800	Weak transcription	NHLF	lung
23	chr16:65041600-65045800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:65041600-65046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:65041600-65047000	Weak transcription	Fetal Stomach	stomach
26	chr16:65042000-65046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:65042800-65045200	Weak transcription	NHDF-Ad	bronchial
28	chr16:65043400-65045400	Enhancers	Fetal Brain Male	brain
29	chr16:65043800-65045600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:65043800-65046800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:65043800-65047200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:65044000-65045800	Weak transcription	Osteobl	bone
33	chr16:65044200-65046200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:65044200-65050600	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:65044400-65045000	Enhancers	Brain Hippocampus Middle	brain
36	chr16:65044400-65045800	Weak transcription	NH-A	brain
37	chr16:65044400-65047400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:65044600-65045800	Weak transcription	Brain Substantia Nigra	brain
39	chr16:65044600-65045800	Weak transcription	Fetal Lung	lung
40	chr16:65044600-65046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:65044600-65049000	Weak transcription	Fetal Brain Female	brain
42	chr16:65044600-65064000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:65044600-65069000	Weak transcription	Brain Germinal Matrix	brain
44	chr16:65044800-65045800	Weak transcription	Brain Anterior Caudate	brain
45	chr16:65044800-65046000	Weak transcription	Brain Angular Gyrus	brain
46	chr16:65044800-65049600	Weak transcription	Brain Cingulate Gyrus	brain

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