Variant report

Variant	rs6498972
Chromosome Location	chr16:65094029-65094030
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]
rs6416688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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:48 , 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	chr16:65072800-65096200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:65081800-65094800	Weak transcription	Lung	lung
5	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:65085000-65095800	Weak transcription	Fetal Brain Female	brain
7	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:65087800-65100600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:65087800-65102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
11	chr16:65088000-65095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:65088200-65101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:65089400-65098000	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:65089400-65101200	Weak transcription	Fetal Brain Male	brain
15	chr16:65089600-65095600	Weak transcription	HSMMtube	muscle
16	chr16:65090400-65099800	Enhancers	Brain Cingulate Gyrus	brain
17	chr16:65090800-65094800	Weak transcription	NHDF-Ad	bronchial
18	chr16:65091400-65097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:65091600-65095800	Weak transcription	Fetal Kidney	kidney
20	chr16:65091800-65094800	Weak transcription	NHLF	lung
21	chr16:65092000-65095800	Weak transcription	HSMM	muscle
22	chr16:65092000-65096200	Weak transcription	Ovary	ovary
23	chr16:65092000-65097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:65092000-65098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:65092200-65102600	Enhancers	Brain Angular Gyrus	brain
26	chr16:65092600-65095200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:65092800-65094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:65093000-65094200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:65093000-65094400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:65093200-65094200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:65093200-65094200	Weak transcription	Osteobl	bone
32	chr16:65093200-65094800	Weak transcription	Pancreas	Pancrea
33	chr16:65093400-65099800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:65093600-65094600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:65093600-65095800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:65093600-65096200	Weak transcription	Brain Germinal Matrix	brain
37	chr16:65093800-65094200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr16:65093800-65094600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:65093800-65096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:65093800-65097000	Enhancers	NH-A	brain
41	chr16:65093800-65097200	Enhancers	Fetal Lung	lung
42	chr16:65093800-65097800	Weak transcription	Fetal Stomach	stomach
43	chr16:65093800-65103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:65094000-65094800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:65094000-65095000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:65094000-65096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:65094000-65100200	Enhancers	Brain Anterior Caudate	brain
48	chr16:65094000-65100200	Enhancers	Brain Substantia Nigra	brain

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