Variant report

Variant	rs2426522
Chromosome Location	chr20:53131377-53131378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53131035..53133953-chr20:53146900..53149514,3	MCF-7	breast:
2	chr20:53131011..53133856-chr20:53139491..53142546,3	MCF-7	breast:
3	chr20:52836547..52837127-chr20:53131049..53131927,2	MCF-7	breast:
4	chr20:53131249..53131942-chr20:53256580..53257475,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10485786	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs16999731	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16999732	0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16999736	0.95[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs16999764	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs17326001	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2426521	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2426525	0.90[ASN][1000 genomes]
rs2426526	0.88[ASN][1000 genomes]
rs2426529	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2426530	0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2426531	0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2426535	0.88[ASN][1000 genomes]
rs2426536	0.90[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57402636	0.88[ASN][1000 genomes]
rs6014049	0.85[AMR][1000 genomes]
rs6014050	0.82[MEX][hapmap];0.92[TSI][hapmap]
rs6023341	0.85[EUR][1000 genomes]
rs6023342	0.85[EUR][1000 genomes]
rs6023344	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6023357	0.84[MEX][hapmap]
rs6091909	0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6098044	0.88[ASN][1000 genomes]
rs6098064	0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6098074	0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.88[AMR][1000 genomes]
rs67854575	0.85[EUR][1000 genomes]
rs726770	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7272302	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7274532	0.85[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73276924	0.90[ASN][1000 genomes]
rs8117905	0.83[AMR][1000 genomes]
rs8126261	0.95[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs974461	0.87[AMR][1000 genomes];0.88[ASN][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	chr20:53111200-53132400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr20:53118800-53132600	Weak transcription	NHDF-Ad	bronchial
3	chr20:53119600-53137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:53120800-53148800	Weak transcription	Left Ventricle	heart
5	chr20:53127800-53132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:53127800-53133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:53128600-53142800	Weak transcription	Psoas Muscle	Psoas
8	chr20:53129600-53149200	Weak transcription	Aorta	Aorta
9	chr20:53129800-53132000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr20:53130400-53131400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr20:53130400-53131400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:53130400-53131400	Enhancers	Fetal Kidney	kidney
13	chr20:53130600-53131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:53130600-53131400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr20:53130600-53131400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:53130600-53131400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:53130600-53131400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr20:53130600-53132400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:53130600-53133000	Enhancers	Fetal Brain Female	brain
20	chr20:53130600-53134600	Enhancers	Fetal Brain Male	brain
21	chr20:53130800-53131600	Enhancers	Brain Anterior Caudate	brain
22	chr20:53130800-53132400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr20:53131000-53131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:53131200-53131400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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