Variant report

Variant	rs495286
Chromosome Location	chr15:43483537-43483538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43476179..43479249-chr15:43481666..43485060,6	K562	blood:
2	chr15:43480701..43484189-chr15:43499859..43502784,3	K562	blood:

Variant related genes	Relation type
ENSG00000166947	Chromatin interaction
ENSG00000261687	Chromatin interaction
ENSG00000166946	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11070386	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs11070391	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070396	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070397	0.81[AFR][1000 genomes]
rs11070398	0.85[EUR][1000 genomes]
rs11630595	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs11855754	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.86[EUR][1000 genomes]
rs12592725	0.92[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12899266	0.89[CEU][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1462856	0.89[CEU][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap]
rs16957511	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes]
rs1834643	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2042742	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2241516	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28585036	0.91[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[MKK][hapmap]
rs28756768	0.86[EUR][1000 genomes]
rs2899077	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs2947019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34646108	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3736054	0.80[JPT][hapmap]
rs3784267	0.88[EUR][1000 genomes]
rs3784268	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4573908	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs4923955	0.89[CEU][hapmap];0.81[MEX][hapmap]
rs4924704	0.89[CEU][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap]
rs4924709	0.98[AMR][1000 genomes]
rs494863	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs497138	1.00[CEU][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs499280	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs530305	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs531850	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs538218	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs540587	0.88[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493076	0.89[CEU][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap]
rs6493077	0.89[CEU][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap]
rs7174915	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7183814	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs8027371	0.92[ASW][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap]
rs8027733	0.89[CEU][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap]
rs8042481	0.89[CEU][hapmap];0.81[MEX][hapmap]
rs9652444	0.83[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv1793290	chr15:43479328-43487742	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs495286	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:43478800-43486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:43478800-43487000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:43479000-43488600	Weak transcription	Fetal Kidney	kidney
8	chr15:43479400-43484800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:43479600-43484800	Weak transcription	HepG2	liver
10	chr15:43480200-43489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:43480200-43490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:43480200-43490000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:43480200-43490000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:43480200-43490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:43480400-43484400	Weak transcription	Stomach Mucosa	stomach
16	chr15:43480400-43486600	Strong transcription	NHDF-Ad	bronchial
17	chr15:43480400-43487200	Strong transcription	Primary T cells from cord blood	blood
18	chr15:43480400-43489800	Strong transcription	Placenta	Placenta
19	chr15:43480400-43490200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:43480400-43491200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:43480400-43491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:43480600-43489800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43480600-43490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:43480800-43484400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:43480800-43486000	Strong transcription	Fetal Brain Female	brain
26	chr15:43480800-43489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:43480800-43489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:43480800-43490200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr15:43480800-43491400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:43481000-43487400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:43481000-43490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:43481000-43490600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:43481200-43485600	Strong transcription	Fetal Intestine Large	intestine
34	chr15:43481200-43485800	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:43481200-43487000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:43481200-43488200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:43481200-43489800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:43481200-43490000	Strong transcription	Thymus	Thymus
39	chr15:43481400-43484000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:43481400-43485400	Strong transcription	Brain Angular Gyrus	brain
41	chr15:43481400-43485400	Strong transcription	Ovary	ovary
42	chr15:43481400-43485600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr15:43481400-43485600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:43481400-43485600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr15:43481400-43485600	Strong transcription	Brain Hippocampus Middle	brain
46	chr15:43481400-43485800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:43481400-43486000	Strong transcription	NHLF	lung
48	chr15:43481400-43486400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:43481400-43486800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:43481400-43487000	Strong transcription	Brain Germinal Matrix	brain

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