Variant report

Variant	rs60520238
Chromosome Location	chr5:43351254-43351255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43313084..43315493-chr5:43350846..43353946,3	MCF-7	breast:
2	chr5:43235885..43238229-chr5:43348836..43351666,2	MCF-7	breast:
3	chr5:43312007..43314075-chr5:43348930..43352517,3	K562	blood:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10037409	0.86[EUR][1000 genomes]
rs10038859	0.86[EUR][1000 genomes]
rs10040897	0.86[EUR][1000 genomes]
rs10043148	0.86[EUR][1000 genomes]
rs10052384	0.86[EUR][1000 genomes]
rs10054415	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10056437	0.86[EUR][1000 genomes]
rs10062031	0.86[EUR][1000 genomes]
rs10062121	0.86[EUR][1000 genomes]
rs10062598	0.86[EUR][1000 genomes]
rs10064967	0.86[EUR][1000 genomes]
rs10067763	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10077324	1.00[EUR][1000 genomes]
rs10079530	1.00[EUR][1000 genomes]
rs10473306	1.00[EUR][1000 genomes]
rs10473308	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11955467	1.00[EUR][1000 genomes]
rs1478436	1.00[EUR][1000 genomes]
rs16874093	1.00[EUR][1000 genomes]
rs16874094	0.85[AFR][1000 genomes]
rs28450849	0.86[EUR][1000 genomes]
rs28608156	1.00[EUR][1000 genomes]
rs28856961	0.86[EUR][1000 genomes]
rs4326149	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55645370	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6865440	0.86[EUR][1000 genomes]
rs6884349	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6892413	0.86[EUR][1000 genomes]
rs6893898	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7356654	0.86[EUR][1000 genomes]
rs7356727	0.84[AFR][1000 genomes]
rs73751075	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751078	0.86[EUR][1000 genomes]
rs73751082	0.86[EUR][1000 genomes]
rs73751083	0.86[EUR][1000 genomes]
rs7710717	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7715267	1.00[EUR][1000 genomes]
rs7729140	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729145	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7733732	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292869	1.00[EUR][1000 genomes]
rs9292870	1.00[EUR][1000 genomes]
rs9292872	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292875	0.84[AFR][1000 genomes];0.86[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	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43348800-43352200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:43350400-43354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:43351000-43351600	Enhancers	Fetal Intestine Large	intestine
4	chr5:43351000-43352400	Enhancers	K562	blood
5	chr5:43351200-43351600	Enhancers	Fetal Intestine Small	intestine
6	chr5:43351200-43351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:43351200-43357200	Weak transcription	Esophagus	oesophagus

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