Variant report

Variant	rs28756768
Chromosome Location	chr15:43531411-43531412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43529509..43532294-chr15:43567272..43569682,2	K562	blood:
2	chr15:43530073..43532270-chr15:43533216..43535267,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPB42-3	chr15:43531251-43531464	NONHSAT042061

Variant related genes	Relation type
ENSG00000159495	Chromatin interaction
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	0.88[EUR][1000 genomes]
rs11070396	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11070397	0.87[EUR][1000 genomes]
rs11070398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11855754	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12592725	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12899266	0.92[EUR][1000 genomes]
rs16957511	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1834643	0.91[EUR][1000 genomes]
rs2042742	0.92[EUR][1000 genomes]
rs2241516	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899077	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2947019	0.89[EUR][1000 genomes]
rs34646108	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3784267	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3784268	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494863	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs495286	0.86[EUR][1000 genomes]
rs497138	0.94[EUR][1000 genomes]
rs499280	0.94[EUR][1000 genomes]
rs530305	0.94[EUR][1000 genomes]
rs531850	0.94[EUR][1000 genomes]
rs538218	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs540587	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7174915	0.88[EUR][1000 genomes]
rs7183814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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
rs28756768	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43528000-43531600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr15:43530000-43532000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr15:43530000-43532400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:43530200-43531600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:43530200-43531600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:43530200-43531600	Enhancers	Adipose Nuclei	Adipose
7	chr15:43530200-43532000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:43530200-43532000	Enhancers	HMEC	breast
9	chr15:43530200-43532200	Enhancers	Fetal Muscle Leg	muscle
10	chr15:43530200-43532800	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:43530200-43533600	Enhancers	GM12878-XiMat	blood
12	chr15:43530400-43531600	Enhancers	Esophagus	oesophagus
13	chr15:43530400-43532600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr15:43530600-43531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:43530600-43531600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr15:43530600-43531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:43530800-43532200	Enhancers	Spleen	Spleen
18	chr15:43530800-43532400	Enhancers	HSMMtube	muscle
19	chr15:43530800-43532400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr15:43530800-43532600	Enhancers	K562	blood
21	chr15:43531000-43532400	Flanking Active TSS	HepG2	liver
22	chr15:43531000-43532600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr15:43531200-43531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:43531200-43531600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:43531400-43531600	Enhancers	Fetal Muscle Trunk	muscle
26	chr15:43531400-43535000	Weak transcription	Psoas Muscle	Psoas

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