Variant report

Variant	rs62214388
Chromosome Location	chr20:53126898-53126899
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53125892..53127915-chr20:53133208..53135728,2	MCF-7	breast:
2	chr20:53124583..53126241-chr20:53126438..53128877,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs16999732	1.00[EUR][1000 genomes]
rs2426520	1.00[EUR][1000 genomes]
rs2426521	1.00[EUR][1000 genomes]
rs56977264	1.00[EUR][1000 genomes]
rs57927391	1.00[EUR][1000 genomes]
rs6014025	1.00[EUR][1000 genomes]
rs60215168	1.00[EUR][1000 genomes]
rs6023260	1.00[EUR][1000 genomes]
rs6023271	1.00[EUR][1000 genomes]
rs6091884	1.00[EUR][1000 genomes]
rs6091909	1.00[EUR][1000 genomes]
rs6097991	1.00[EUR][1000 genomes]
rs6097995	1.00[EUR][1000 genomes]
rs61495423	1.00[EUR][1000 genomes]
rs73276931	1.00[AMR][1000 genomes]
rs793039	1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53102400-53127200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:53108200-53127200	Weak transcription	Ovary	ovary
3	chr20:53111200-53132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:53111600-53127400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:53115000-53130600	Weak transcription	Fetal Brain Female	brain
6	chr20:53116400-53127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:53118800-53132600	Weak transcription	NHDF-Ad	bronchial
8	chr20:53119600-53137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:53120800-53129200	Weak transcription	Aorta	Aorta
10	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
11	chr20:53126200-53127600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr20:53126200-53127600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr20:53126200-53127800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr20:53126200-53127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:53126200-53128600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:53126600-53127600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:53126600-53127800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr20:53126600-53127800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:53126600-53127800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr20:53126800-53127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:53126800-53127200	Weak transcription	Fetal Brain Male	brain
22	chr20:53126800-53127400	Weak transcription	Fetal Kidney	kidney

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