Variant report

Variant	rs1520228
Chromosome Location	chr16:65059820-65059821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12443990	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447074	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12448289	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65039000-65061200	Weak transcription	Aorta	Aorta
2	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
3	chr16:65039200-65068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:65039600-65079800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:65040600-65086000	Weak transcription	HMEC	breast
6	chr16:65041200-65072400	Weak transcription	Fetal Kidney	kidney
7	chr16:65044600-65064000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:65044600-65069000	Weak transcription	Brain Germinal Matrix	brain
9	chr16:65046400-65075600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:65047200-65061200	Weak transcription	NHLF	lung
11	chr16:65047200-65078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:65050800-65061200	Weak transcription	Brain Anterior Caudate	brain
13	chr16:65051000-65062400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:65051000-65071200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:65051200-65062600	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:65051200-65062600	Weak transcription	Brain Substantia Nigra	brain
17	chr16:65051200-65063400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:65051200-65063400	Weak transcription	Fetal Brain Male	brain
19	chr16:65052200-65070800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:65052800-65068800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:65053000-65062000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:65053000-65065000	Weak transcription	HSMM	muscle
23	chr16:65053000-65065200	Weak transcription	NHDF-Ad	bronchial
24	chr16:65053000-65069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:65056600-65061400	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:65056800-65072800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:65058000-65061400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:65058000-65061400	Weak transcription	Fetal Lung	lung
29	chr16:65058000-65066600	Weak transcription	Fetal Stomach	stomach
30	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr16:65058800-65064400	Weak transcription	Placenta	Placenta
32	chr16:65058800-65069200	Weak transcription	Fetal Brain Female	brain
33	chr16:65059000-65068000	Weak transcription	Spleen	Spleen
34	chr16:65059200-65061000	Weak transcription	HSMMtube	muscle
35	chr16:65059200-65062600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:65059200-65062800	Strong transcription	Osteobl	bone
37	chr16:65059200-65068200	Weak transcription	NH-A	brain
38	chr16:65059400-65062000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:65059400-65066200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr16:65059600-65060000	Genic enhancers	Ovary	ovary
41	chr16:65059600-65061400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:65059600-65062600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:65059600-65063400	Weak transcription	HUVEC	blood vessel
44	chr16:65059800-65060000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:65059800-65060000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr16:65059800-65060600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:65059800-65078400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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