Variant report

Variant	rs73259598
Chromosome Location	chr20:11277920-11277921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57115151	1.00[AMR][1000 genomes]
rs58216971	1.00[AMR][1000 genomes]
rs60081001	1.00[AMR][1000 genomes]
rs60163302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73243910	1.00[AMR][1000 genomes]
rs73259566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261534	1.00[AMR][1000 genomes]
rs73261541	1.00[AMR][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	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
4	nsv458869	chr20:11271614-11306751	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv585417	chr20:11271614-11306751	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11274600-11278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:11277000-11278200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr20:11277000-11278200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:11277000-11278200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:11277000-11278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11277000-11278200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:11277000-11278200	Enhancers	HMEC	breast
8	chr20:11277000-11278200	Enhancers	NHEK	skin
9	chr20:11277000-11278400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:11277200-11278200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr20:11277400-11278000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr20:11277400-11278000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr20:11277400-11278000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:11277400-11278200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:11277600-11278200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:11277600-11278200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:11277600-11278200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr20:11277600-11282400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:11277800-11278200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:11277800-11278200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:11277800-11278200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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