Variant report

Variant	rs62191768
Chromosome Location	chr20:11214764-11214765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12481635	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17225099	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4395311	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6134162	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62191769	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191782	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191786	0.86[AMR][1000 genomes];0.96[ASN][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11207600-11216400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:11210800-11214800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr20:11210800-11215400	Weak transcription	Fetal Stomach	stomach
4	chr20:11211000-11214800	Weak transcription	HSMM	muscle
5	chr20:11211000-11215200	Weak transcription	Fetal Kidney	kidney
6	chr20:11211000-11215400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr20:11211000-11215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:11211000-11215800	Weak transcription	Right Atrium	heart
9	chr20:11211000-11218600	Weak transcription	HSMMtube	muscle
10	chr20:11211200-11214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:11211200-11214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:11211200-11214800	Weak transcription	NH-A	brain
13	chr20:11211200-11215200	Weak transcription	Osteobl	bone
14	chr20:11211200-11215400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr20:11211400-11216000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:11211800-11214800	Weak transcription	HMEC	breast
17	chr20:11211800-11215600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:11211800-11215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:11211800-11215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr20:11212000-11215200	Weak transcription	NHEK	skin
21	chr20:11213000-11215000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:11213200-11216600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:11213400-11215800	Weak transcription	Fetal Muscle Leg	muscle
24	chr20:11213600-11214800	Weak transcription	Brain Angular Gyrus	brain
25	chr20:11213600-11216000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:11213800-11215800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:11214000-11215400	Enhancers	Brain Hippocampus Middle	brain
28	chr20:11214200-11215600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:11214400-11216800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:11214600-11215200	Enhancers	Brain Anterior Caudate	brain
31	chr20:11214600-11215200	Enhancers	GM12878-XiMat	blood
32	chr20:11214600-11215400	Enhancers	Fetal Lung	lung
33	chr20:11214600-11215400	Enhancers	Stomach Mucosa	stomach
34	chr20:11214600-11216200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr20:11214600-11216400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:11214600-11216600	Enhancers	HUVEC	blood vessel
37	chr20:11214600-11217400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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