Variant report

Variant	rs67854575
Chromosome Location	chr20:53140767-53140768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:783641..785380-chr20:53139762..53142307,2	MCF-7	breast:
2	chr20:53139463..53141004-chr20:53141568..53144031,2	MCF-7	breast:
3	chr20:53131011..53133856-chr20:53139491..53142546,3	MCF-7	breast:
4	chr20:53127125..53128837-chr20:53140416..53143219,2	MCF-7	breast:
5	chr20:53140576..53144414-chr20:53148249..53150515,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103245	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17326001	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17326260	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2426522	0.85[EUR][1000 genomes]
rs2426529	0.92[EUR][1000 genomes]
rs2426530	0.93[EUR][1000 genomes]
rs2426536	0.82[EUR][1000 genomes]
rs6014046	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6023341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023344	0.93[EUR][1000 genomes]
rs6023346	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6098064	0.81[EUR][1000 genomes]
rs62214422	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs66842421	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs726770	0.92[EUR][1000 genomes]
rs7272302	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
2	chr20:53128600-53142800	Weak transcription	Psoas Muscle	Psoas
3	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
4	chr20:53131400-53140800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:53132400-53142000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:53133200-53140800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:53137000-53142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:53137600-53142200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:53140000-53142400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr20:53140400-53140800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:53140400-53141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:53140400-53142600	Enhancers	Fetal Muscle Leg	muscle
13	chr20:53140400-53143000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:53140400-53143200	Enhancers	Fetal Brain Female	brain
15	chr20:53140400-53144000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr20:53140600-53140800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr20:53140600-53140800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr20:53140600-53140800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr20:53140600-53141000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:53140600-53141200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr20:53140600-53142200	Enhancers	Brain Anterior Caudate	brain
22	chr20:53140600-53143200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:53140600-53143600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr20:53140600-53143800	Enhancers	Fetal Brain Male	brain

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