Variant report

Variant	rs442869
Chromosome Location	chr5:40867541-40867542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40861136..40863091-chr5:40865638..40868114,2	K562	blood:
2	chr5:40833133..40835990-chr5:40867095..40868657,2	K562	blood:
3	chr5:40840448..40842077-chr5:40865618..40867918,2	K562	blood:
4	chr5:40833348..40835885-chr5:40864377..40867574,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000132357	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10037936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10050965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10059556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064232	0.88[ASN][1000 genomes]
rs1070445	0.94[ASN][1000 genomes]
rs1097592	0.94[ASN][1000 genomes]
rs1097604	0.94[ASN][1000 genomes]
rs1530811	0.88[ASN][1000 genomes]
rs154273	0.88[ASN][1000 genomes]
rs154274	0.94[ASN][1000 genomes]
rs1631661	0.88[ASN][1000 genomes]
rs1697929	0.94[ASN][1000 genomes]
rs1697937	0.94[ASN][1000 genomes]
rs1833892	0.88[ASN][1000 genomes]
rs184436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs187274	0.88[ASN][1000 genomes]
rs192962	0.94[ASN][1000 genomes]
rs2262009	0.94[ASN][1000 genomes]
rs249443	0.88[ASN][1000 genomes]
rs249444	0.88[ASN][1000 genomes]
rs29762	0.88[ASN][1000 genomes]
rs29763	0.88[ASN][1000 genomes]
rs29764	0.88[ASN][1000 genomes]
rs323554	0.88[ASN][1000 genomes]
rs323556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs323560	0.94[ASN][1000 genomes]
rs323562	0.94[ASN][1000 genomes]
rs39794	0.88[ASN][1000 genomes]
rs408238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs418494	0.94[ASN][1000 genomes]
rs42515	0.88[ASN][1000 genomes]
rs433730	0.94[ASN][1000 genomes]
rs466960	0.88[ASN][1000 genomes]
rs694217	0.88[ASN][1000 genomes]
rs7715627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7717507	0.88[ASN][1000 genomes]
rs837378	0.94[ASN][1000 genomes]
rs837381	0.94[ASN][1000 genomes]
rs837382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs837384	0.94[ASN][1000 genomes]
rs837385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs837389	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40856200-40871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40866400-40867600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:40866600-40868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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