Variant report

Variant	rs17725752
Chromosome Location	chr20:16088321-16088322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11696354	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11696868	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11696962	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11697461	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11698049	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11698180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11698744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11698872	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11699760	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11700056	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11700271	1.00[CHB][hapmap]
rs1323312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17646949	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17648202	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17727461	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6043751	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16085200-16089600	Weak transcription	Primary B cells from cord blood	blood
2	chr20:16085800-16089400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr20:16086800-16088800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:16087000-16088400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr20:16087000-16088800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:16087000-16089000	Enhancers	Spleen	Spleen
7	chr20:16087400-16088800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr20:16087400-16089000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:16087600-16088400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:16087600-16088400	Enhancers	Psoas Muscle	Psoas
11	chr20:16087600-16088400	Enhancers	Stomach Smooth Muscle	stomach
12	chr20:16087600-16088600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:16087600-16088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:16087600-16088600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:16087600-16088600	Enhancers	Brain Substantia Nigra	brain
16	chr20:16087600-16088600	Enhancers	Fetal Muscle Trunk	muscle
17	chr20:16087600-16088600	Enhancers	Left Ventricle	heart
18	chr20:16087600-16088600	Enhancers	Ovary	ovary
19	chr20:16087600-16088600	Enhancers	Right Ventricle	heart
20	chr20:16087600-16088600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr20:16087600-16088800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:16087600-16088800	Enhancers	Fetal Muscle Leg	muscle
23	chr20:16087600-16088800	Enhancers	Right Atrium	heart
24	chr20:16087600-16088800	Enhancers	HepG2	liver
25	chr20:16087800-16088400	Enhancers	Adipose Nuclei	Adipose
26	chr20:16087800-16088800	Enhancers	Fetal Heart	heart
27	chr20:16088000-16088400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:16088000-16088400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:16088000-16088400	Enhancers	Brain Cingulate Gyrus	brain
30	chr20:16088000-16088400	Bivalent Enhancer	Fetal Stomach	stomach
31	chr20:16088000-16088800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr20:16088200-16088400	Bivalent Enhancer	Brain Angular Gyrus	brain
33	chr20:16088200-16088400	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr20:16088200-16088400	Bivalent Enhancer	Fetal Lung	lung
35	chr20:16088200-16088600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:16088200-16088600	Enhancers	Brain Hippocampus Middle	brain
37	chr20:16088200-16088600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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