Variant report

Variant	rs8048351
Chromosome Location	chr16:65103292-65103293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1025311	0.84[EUR][1000 genomes]
rs1040270	0.96[ASN][1000 genomes]
rs1040271	0.93[ASN][1000 genomes]
rs10500508	0.93[ASN][1000 genomes]
rs1079008	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12597529	0.84[EUR][1000 genomes]
rs12925954	0.84[EUR][1000 genomes]
rs12935138	0.96[ASN][1000 genomes]
rs1356823	0.82[ASN][1000 genomes]
rs1520231	0.92[EUR][1000 genomes]
rs1520232	0.86[ASN][1000 genomes]
rs1520236	0.93[ASN][1000 genomes]
rs1520241	0.84[EUR][1000 genomes]
rs1520243	0.90[EUR][1000 genomes]
rs1532418	0.96[ASN][1000 genomes]
rs16968461	0.93[ASN][1000 genomes]
rs16968480	0.88[ASN][1000 genomes]
rs1908723	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1915117	0.93[ASN][1000 genomes]
rs2088285	0.98[ASN][1000 genomes]
rs2132543	0.89[ASN][1000 genomes]
rs34553411	0.84[ASN][1000 genomes]
rs35054335	0.95[ASN][1000 genomes]
rs35263777	0.89[EUR][1000 genomes]
rs35709707	0.95[ASN][1000 genomes]
rs4393595	0.96[ASN][1000 genomes]
rs4967866	0.83[EUR][1000 genomes]
rs4967868	0.90[ASN][1000 genomes]
rs4967884	0.82[ASN][1000 genomes]
rs4967885	0.96[ASN][1000 genomes]
rs4967886	0.96[ASN][1000 genomes]
rs7204729	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7498801	0.93[ASN][1000 genomes]
rs909003	0.84[EUR][1000 genomes]
rs973200	0.84[EUR][1000 genomes]
rs974782	0.84[ASN][1000 genomes]
rs9935608	0.86[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:61 , 50 per page) page: 1 2

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	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
5	chr16:65093800-65103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:65095000-65113400	Weak transcription	Lung	lung
7	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
8	chr16:65096200-65104800	Weak transcription	Fetal Kidney	kidney
9	chr16:65098200-65103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:65098400-65103600	Weak transcription	HMEC	breast
11	chr16:65098800-65105000	Enhancers	Ovary	ovary
12	chr16:65100000-65103800	Weak transcription	Spleen	Spleen
13	chr16:65100600-65104600	Enhancers	Brain Substantia Nigra	brain
14	chr16:65100600-65104800	Enhancers	Brain Cingulate Gyrus	brain
15	chr16:65100800-65104400	Enhancers	Brain Hippocampus Middle	brain
16	chr16:65100800-65104600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr16:65100800-65104800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:65101000-65103600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:65101000-65103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:65101200-65103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:65101200-65103800	Enhancers	Brain Germinal Matrix	brain
22	chr16:65101200-65104000	Enhancers	Osteobl	bone
23	chr16:65101400-65104200	Enhancers	Fetal Lung	lung
24	chr16:65101400-65104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:65101400-65104400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:65101400-65104800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:65101400-65104800	Weak transcription	Fetal Brain Female	brain
28	chr16:65101600-65104800	Enhancers	Brain Anterior Caudate	brain
29	chr16:65101600-65104800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:65101600-65104800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:65101600-65105400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:65101800-65103400	Enhancers	HSMM	muscle
33	chr16:65101800-65105000	Enhancers	NHLF	lung
34	chr16:65102000-65103400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:65102000-65103400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr16:65102000-65104800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr16:65102000-65104800	Enhancers	HSMMtube	muscle
38	chr16:65102000-65105000	Enhancers	NHDF-Ad	bronchial
39	chr16:65102200-65103400	Weak transcription	Psoas Muscle	Psoas
40	chr16:65102200-65104200	Weak transcription	Right Atrium	heart
41	chr16:65102400-65103400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:65102400-65103600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr16:65102600-65103600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:65102600-65103600	Weak transcription	Brain Angular Gyrus	brain
45	chr16:65102600-65103800	Weak transcription	Adipose Nuclei	Adipose
46	chr16:65102600-65104200	Weak transcription	Fetal Brain Male	brain
47	chr16:65102600-65104800	Weak transcription	Fetal Stomach	stomach
48	chr16:65102800-65104200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:65103000-65103400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:65103000-65103800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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