Variant report

Variant	rs55805543
Chromosome Location	chr15:43160403-43160404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1037990	0.83[EUR][1000 genomes]
rs10467975	0.90[ASN][1000 genomes]
rs11070380	0.84[AFR][1000 genomes]
rs11070382	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070386	0.80[EUR][1000 genomes]
rs11070387	0.80[EUR][1000 genomes]
rs11630595	0.80[EUR][1000 genomes]
rs11853250	0.90[ASN][1000 genomes]
rs12050596	0.82[EUR][1000 genomes]
rs12441352	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12913617	0.80[EUR][1000 genomes]
rs1381856	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1462856	0.83[EUR][1000 genomes]
rs16957244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16957250	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16957264	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16957385	0.80[EUR][1000 genomes]
rs1972447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1993813	0.88[EUR][1000 genomes]
rs2035170	0.80[EUR][1000 genomes]
rs2054389	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126602	0.86[EUR][1000 genomes]
rs2412746	0.88[EUR][1000 genomes]
rs2412747	0.88[EUR][1000 genomes]
rs2682073	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733224	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2899069	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3784265	0.80[EUR][1000 genomes]
rs3803341	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4244590	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4338775	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4509988	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4573908	0.80[EUR][1000 genomes]
rs4923955	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4924701	0.86[EUR][1000 genomes]
rs4924704	0.82[EUR][1000 genomes]
rs60763334	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6416436	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493071	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6493076	0.82[EUR][1000 genomes]
rs6493077	0.80[EUR][1000 genomes]
rs66530524	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7162939	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7162959	0.94[EUR][1000 genomes]
rs7174028	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7178567	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8027733	0.80[EUR][1000 genomes]
rs8031767	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037022	0.88[EUR][1000 genomes]
rs8042481	0.88[EUR][1000 genomes]
rs9920498	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920904	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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
4	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	esv3400306	chr15:43135709-43164903	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	esv3490431	chr15:43148709-43190630	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3490432	chr15:43148709-43190630	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55805543	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
4	chr15:43103000-43165400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:43114800-43172000	Weak transcription	Pancreas	Pancrea
7	chr15:43119600-43168200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:43119600-43172600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:43119800-43163200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:43119800-43170200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:43125400-43173600	Weak transcription	Hela-S3	cervix
12	chr15:43131000-43165200	Weak transcription	Thymus	Thymus
13	chr15:43131600-43171800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:43132000-43186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:43132200-43162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:43132200-43166200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:43132400-43165400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:43132400-43172800	Weak transcription	Ovary	ovary
19	chr15:43132600-43171200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:43136600-43167200	Weak transcription	Dnd41	blood
21	chr15:43136800-43165200	Weak transcription	Brain Germinal Matrix	brain
22	chr15:43136800-43169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43136800-43169200	Weak transcription	Fetal Intestine Small	intestine
24	chr15:43136800-43182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:43137000-43164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:43140000-43164600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:43142200-43162400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:43142400-43182400	Weak transcription	Lung	lung
29	chr15:43142600-43160800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:43142600-43169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:43142600-43170200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:43142800-43172000	Weak transcription	Fetal Intestine Large	intestine
33	chr15:43145400-43169200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:43148800-43162200	Weak transcription	Fetal Lung	lung
35	chr15:43149200-43163000	Weak transcription	Fetal Stomach	stomach
36	chr15:43151000-43169400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:43151600-43182400	Weak transcription	Aorta	Aorta
38	chr15:43151800-43163000	Weak transcription	Left Ventricle	heart
39	chr15:43151800-43163600	Weak transcription	Esophagus	oesophagus
40	chr15:43151800-43169200	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:43151800-43173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:43151800-43178600	Weak transcription	Placenta	Placenta
43	chr15:43152200-43162000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:43152200-43167400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:43152200-43170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:43154200-43174000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:43154600-43182400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:43155000-43182600	Weak transcription	Primary T cells from cord blood	blood
49	chr15:43156000-43165000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr15:43156000-43171400	Weak transcription	Fetal Brain Male	brain

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