Variant report

Variant	rs8125140
Chromosome Location	chr20:11424769-11424770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10485748	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11696745	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11696986	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4270409	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4814001	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4814018	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55970622	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56383233	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6040669	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6040759	0.86[CEU][hapmap]
rs62191897	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62191904	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62191905	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62191909	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62191910	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62191911	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73079893	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs926909	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs973969	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][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	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	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11417000-11426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11417000-11432200	Weak transcription	A549	lung
3	chr20:11421200-11428000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:11421600-11425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:11423200-11424800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr20:11423600-11424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr20:11423600-11424800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:11423600-11424800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:11423600-11424800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:11423600-11424800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:11423600-11424800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr20:11423600-11424800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:11423600-11425400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:11423800-11425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:11423800-11429800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:11423800-11432400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:11424000-11424800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:11424200-11427200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr20:11424400-11424800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr20:11424400-11424800	Enhancers	Psoas Muscle	Psoas
21	chr20:11424600-11424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:11424600-11428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr20:11424600-11428400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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