Variant report

Variant	rs4924709
Chromosome Location	chr15:43457732-43457733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43456149..43457940-chr15:43469961..43472169,2	K562	blood:

Variant related genes	Relation type
ENSG00000166947	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11070391	0.88[AMR][1000 genomes]
rs11070396	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11855754	0.90[ASN][1000 genomes]
rs12592725	0.85[ASN][1000 genomes]
rs12899266	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16957511	0.90[ASN][1000 genomes]
rs1834643	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2042742	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2241516	0.90[ASN][1000 genomes]
rs2947019	0.98[AMR][1000 genomes]
rs34646108	0.90[ASN][1000 genomes]
rs3784267	0.90[ASN][1000 genomes]
rs3784268	0.83[ASN][1000 genomes]
rs494863	0.80[ASN][1000 genomes]
rs495286	0.98[AMR][1000 genomes]
rs497138	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs499280	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs530305	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531850	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540587	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493078	0.83[ASN][1000 genomes]
rs7174915	0.88[AMR][1000 genomes]
rs8027371	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	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
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	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
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv94791	chr15:43454645-43458755	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4924709	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
2	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
3	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
4	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
7	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:43433400-43460600	Weak transcription	Gastric	stomach
9	chr15:43433400-43467600	Weak transcription	HSMM	muscle
10	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
11	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
12	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:43437000-43460400	Weak transcription	K562	blood
14	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:43437200-43462000	Weak transcription	Dnd41	blood
16	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
21	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
23	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
24	chr15:43442000-43461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:43442000-43476800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:43442600-43460600	Weak transcription	NHLF	lung
27	chr15:43442800-43460400	Weak transcription	NH-A	brain
28	chr15:43442800-43460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:43443000-43460600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:43443000-43467600	Weak transcription	Aorta	Aorta
31	chr15:43443200-43460800	Weak transcription	Colonic Mucosa	Colon
32	chr15:43443200-43460800	Weak transcription	HUVEC	blood vessel
33	chr15:43443400-43460400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:43444600-43477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:43444800-43465400	Weak transcription	Brain Germinal Matrix	brain
36	chr15:43444800-43471600	Weak transcription	Primary T cells from cord blood	blood
37	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:43445000-43460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:43445000-43471600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:43445600-43460600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:43445800-43458400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:43446000-43476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:43446400-43458000	Weak transcription	HMEC	breast
45	chr15:43447000-43460600	Weak transcription	Fetal Heart	heart
46	chr15:43447000-43460600	Weak transcription	A549	lung
47	chr15:43447600-43460400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:43447600-43460400	Weak transcription	Lung	lung
49	chr15:43447600-43477600	Weak transcription	Small Intestine	intestine
50	chr15:43448000-43477400	Weak transcription	Ovary	ovary

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