Variant report

Variant	rs26988
Chromosome Location	chr5:112782430-112782431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112781329..112783390-chr5:112851064..112853901,2	K562	blood:
2	chr5:112781505..112783178-chr5:112822081..112824914,2	MCF-7	breast:
3	chr5:112782163..112784363-chr5:112787985..112789693,2	K562	blood:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10071966	0.80[ASN][1000 genomes]
rs1517208	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517210	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154039	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs154040	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs164251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs171181	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs173903	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1820056	0.82[ASN][1000 genomes]
rs1845290	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs190453	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2431548	0.80[ASN][1000 genomes]
rs2434664	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs255856	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs255858	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs255863	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs255867	0.82[AMR][1000 genomes]
rs255874	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs26960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs26983	0.81[AMR][1000 genomes]
rs26985	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26987	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27566	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs27700	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs348927	0.82[ASN][1000 genomes]
rs348933	0.80[ASN][1000 genomes]
rs348949	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs348950	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs348953	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36612	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3857435	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3936062	0.80[ASN][1000 genomes]
rs406288	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs423089	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4398627	0.85[AMR][1000 genomes]
rs459428	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs461034	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs463216	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs465898	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs466564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705813	0.81[AMR][1000 genomes]
rs6594711	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs675353	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6869097	0.81[AMR][1000 genomes]
rs6875238	0.81[AMR][1000 genomes]
rs6879612	0.84[ASN][1000 genomes]
rs7702120	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7727449	0.85[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112764800-112786800	Weak transcription	NHEK	skin
4	chr5:112770400-112783400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112770600-112786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112780400-112787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112781600-112784000	Enhancers	Fetal Heart	heart
8	chr5:112781800-112782600	Enhancers	Dnd41	blood
9	chr5:112782200-112789600	Enhancers	Fetal Stomach	stomach
10	chr5:112782400-112782600	Enhancers	Fetal Lung	lung

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