Variant report

Variant	rs73244000
Chromosome Location	chr20:11359516-11359517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10048850	0.85[EUR][1000 genomes]
rs16992379	0.94[EUR][1000 genomes]
rs16992385	0.97[EUR][1000 genomes]
rs2092643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207102	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2207111	0.97[EUR][1000 genomes]
rs56880002	0.86[EUR][1000 genomes]
rs56916303	0.97[EUR][1000 genomes]
rs57343506	0.88[EUR][1000 genomes]
rs57494012	0.94[EUR][1000 genomes]
rs57530621	0.94[EUR][1000 genomes]
rs57628024	0.88[EUR][1000 genomes]
rs58745127	1.00[EUR][1000 genomes]
rs60059631	1.00[EUR][1000 genomes]
rs6033098	0.88[EUR][1000 genomes]
rs6033105	0.84[EUR][1000 genomes]
rs6033115	0.94[EUR][1000 genomes]
rs60399139	0.94[EUR][1000 genomes]
rs6040519	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040525	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6040535	0.94[EUR][1000 genomes]
rs6040544	0.94[EUR][1000 genomes]
rs6040547	0.94[EUR][1000 genomes]
rs6040549	0.94[EUR][1000 genomes]
rs6040550	0.94[EUR][1000 genomes]
rs6040552	0.94[EUR][1000 genomes]
rs6040560	1.00[EUR][1000 genomes]
rs6040600	0.91[AFR][1000 genomes]
rs6040609	0.89[ASN][1000 genomes]
rs6040610	0.89[ASN][1000 genomes]
rs6040613	0.89[ASN][1000 genomes]
rs6040614	0.89[ASN][1000 genomes]
rs60517966	0.94[EUR][1000 genomes]
rs61045178	0.85[EUR][1000 genomes]
rs73243915	0.97[EUR][1000 genomes]
rs73243929	1.00[EUR][1000 genomes]
rs73243934	1.00[EUR][1000 genomes]
rs73243975	1.00[EUR][1000 genomes]
rs73243981	1.00[EUR][1000 genomes]
rs73245616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73245627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73245659	0.89[ASN][1000 genomes]
rs73245669	0.89[ASN][1000 genomes]
rs73261557	0.94[EUR][1000 genomes]
rs8120449	0.89[ASN][1000 genomes]
rs982209	0.94[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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11345400-11360000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:11346800-11360000	Weak transcription	Psoas Muscle	Psoas
3	chr20:11350400-11360200	Weak transcription	Pancreas	Pancrea
4	chr20:11354400-11359600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:11354400-11360000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:11354600-11359800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:11354600-11360000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:11354600-11360000	Weak transcription	Fetal Muscle Leg	muscle
9	chr20:11354600-11360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:11354600-11360200	Weak transcription	Spleen	Spleen
11	chr20:11356600-11360000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:11357000-11360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:11358000-11360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:11358000-11360000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:11358400-11360200	Weak transcription	Osteobl	bone
16	chr20:11358600-11360000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:11358600-11360000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:11358600-11360000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:11358600-11361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:11358600-11361200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:11358800-11360000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:11358800-11360000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:11358800-11360000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:11358800-11360000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr20:11359000-11360000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr20:11359200-11360200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr20:11359200-11361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:11359400-11359800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:11359400-11359800	Weak transcription	Esophagus	oesophagus

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