Variant report

Variant	rs11070398
Chromosome Location	chr15:43534922-43534923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43530073..43532270-chr15:43533216..43535267,2	K562	blood:
2	chr15:43534761..43537041-chr15:43552262..43555022,2	K562	blood:

Variant related genes	Relation type
ENSG00000104055	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11070391	0.86[EUR][1000 genomes]
rs11070396	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11070397	0.86[EUR][1000 genomes]
rs11855754	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12592725	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12899266	0.91[EUR][1000 genomes]
rs16957511	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1834643	0.89[EUR][1000 genomes]
rs2042742	0.91[EUR][1000 genomes]
rs2241516	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28756768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899077	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2947019	0.88[EUR][1000 genomes]
rs34646108	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784267	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784268	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs494863	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495286	0.85[EUR][1000 genomes]
rs497138	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499280	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs530305	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs531850	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs538218	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs540587	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174915	0.86[EUR][1000 genomes]
rs7183814	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11070398	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43531400-43535000	Weak transcription	Psoas Muscle	Psoas
2	chr15:43531600-43536400	Weak transcription	Esophagus	oesophagus
3	chr15:43532200-43537600	Weak transcription	Spleen	Spleen
4	chr15:43532600-43541600	Weak transcription	K562	blood
5	chr15:43533000-43535000	Enhancers	Adipose Nuclei	Adipose
6	chr15:43533000-43535200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:43534600-43535200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:43534800-43535000	Enhancers	Fetal Muscle Leg	muscle

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