Variant report

Variant	rs60517966
Chromosome Location	chr20:11318271-11318272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10048850	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092643	0.91[EUR][1000 genomes]
rs2207102	0.94[EUR][1000 genomes]
rs2207111	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813983	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56880002	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56916303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57343506	0.88[EUR][1000 genomes]
rs57494012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57628024	0.88[EUR][1000 genomes]
rs58745127	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60059631	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6033098	0.94[EUR][1000 genomes]
rs6033105	0.89[EUR][1000 genomes]
rs6033115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60399139	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6040519	0.94[EUR][1000 genomes]
rs6040525	0.94[EUR][1000 genomes]
rs6040535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040560	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61045178	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108901	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108902	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61252470	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73243915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243975	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243981	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73244000	0.94[EUR][1000 genomes]
rs73245616	0.91[EUR][1000 genomes]
rs73245627	0.91[EUR][1000 genomes]
rs73261557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982209	1.00[EUR][1000 genomes];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11312000-11323200	Weak transcription	Psoas Muscle	Psoas
2	chr20:11314000-11323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11315800-11319200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:11316200-11318600	Weak transcription	Fetal Intestine Large	intestine
5	chr20:11317200-11319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:11317400-11319400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:11317600-11318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:11317600-11319000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:11317800-11319400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:11317800-11319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr20:11318000-11318400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:11318000-11318600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:11318000-11318600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:11318000-11319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:11318200-11318400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:11318200-11318600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:11318200-11318600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr20:11318200-11318600	Enhancers	Stomach Mucosa	stomach

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