Variant report

Variant	rs12050596
Chromosome Location	chr15:43349767-43349768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1037990	0.96[EUR][1000 genomes]
rs11070382	0.83[EUR][1000 genomes]
rs11070386	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11070387	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11070388	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11630595	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12905967	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12913617	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1381856	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1462856	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16957244	0.84[EUR][1000 genomes]
rs16957385	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1972447	0.88[EUR][1000 genomes]
rs1993813	0.91[EUR][1000 genomes]
rs1996675	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2035170	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054389	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126602	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2412746	0.91[EUR][1000 genomes]
rs2412747	0.91[EUR][1000 genomes]
rs2682073	0.84[EUR][1000 genomes]
rs2733224	0.82[EUR][1000 genomes]
rs2899069	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3736054	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3784265	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3803341	0.89[EUR][1000 genomes]
rs4244590	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338775	0.91[EUR][1000 genomes]
rs4509988	0.91[EUR][1000 genomes]
rs4573908	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4923955	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924701	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4924704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55805543	0.82[EUR][1000 genomes]
rs60763334	0.84[EUR][1000 genomes]
rs6416436	0.91[EUR][1000 genomes]
rs6493071	0.84[EUR][1000 genomes]
rs6493074	0.81[AMR][1000 genomes]
rs6493076	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493077	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66530524	0.84[EUR][1000 genomes]
rs7162939	0.83[EUR][1000 genomes]
rs7162959	0.81[EUR][1000 genomes]
rs7174028	0.84[EUR][1000 genomes]
rs7176116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7178567	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8027733	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8031767	0.82[EUR][1000 genomes]
rs8035894	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8036710	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8037022	0.91[EUR][1000 genomes]
rs8042481	0.91[EUR][1000 genomes]
rs9796571	0.87[EUR][1000 genomes]
rs9920498	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9920904	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	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
9	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	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
14	nsv904137	chr15:43268970-43392075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	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
17	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
18	nsv904140	chr15:43276345-43385147	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv904141	chr15:43276345-43392075	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	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
23	esv3384283	chr15:43280479-43380788	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv904145	chr15:43286746-43392075	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1048937	chr15:43299522-43357631	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12050596	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43301800-43385800	Weak transcription	Gastric	stomach
4	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
5	chr15:43322600-43376200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:43333000-43356200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:43333000-43367400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:43333000-43367400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:43333400-43355000	Strong transcription	Placenta	Placenta
10	chr15:43333400-43355600	Strong transcription	Fetal Intestine Large	intestine
11	chr15:43333400-43355800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:43333400-43367200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:43333400-43367400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:43333400-43367400	Strong transcription	Adipose Nuclei	Adipose
15	chr15:43333600-43355000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:43333600-43355000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:43333600-43355600	Strong transcription	Primary B cells from cord blood	blood
18	chr15:43333600-43355800	Strong transcription	Fetal Thymus	thymus
19	chr15:43333600-43356400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:43333600-43356600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr15:43333600-43363200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:43333600-43367400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:43333600-43367400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:43333600-43367600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:43333600-43367600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:43333600-43367800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:43333600-43367800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:43333600-43377200	Weak transcription	Stomach Mucosa	stomach
29	chr15:43333800-43354800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:43333800-43355400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:43334000-43350200	Strong transcription	Primary T cells from cord blood	blood
32	chr15:43334000-43355200	Strong transcription	Liver	Liver
33	chr15:43334000-43355400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:43334000-43367400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:43334400-43356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:43337400-43355000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:43337800-43358200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:43339400-43354600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr15:43340200-43380000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:43341200-43351800	Strong transcription	Brain Angular Gyrus	brain
41	chr15:43342000-43355600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr15:43342800-43352400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr15:43342800-43355200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:43343000-43352600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:43343000-43354600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:43343000-43356400	Strong transcription	Fetal Lung	lung
47	chr15:43343000-43356400	Strong transcription	Dnd41	blood
48	chr15:43343200-43350200	Strong transcription	Fetal Brain Female	brain
49	chr15:43343200-43353600	Strong transcription	GM12878-XiMat	blood
50	chr15:43343200-43355800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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