Variant report

Variant	rs2733224
Chromosome Location	chr15:43205761-43205762
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	chr15:43201553..43203286-chr15:43204467..43206953,2	K562	blood:
2	chr15:43204600..43210679-chr15:43210946..43214208,10	K562	blood:

Variant related genes	Relation type
ENSG00000128881	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1037990	0.83[EUR][1000 genomes]
rs11070382	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070386	0.81[EUR][1000 genomes]
rs11070387	0.81[EUR][1000 genomes]
rs11630595	0.81[EUR][1000 genomes]
rs12050596	0.82[EUR][1000 genomes]
rs12441352	0.83[EUR][1000 genomes]
rs12913617	0.81[EUR][1000 genomes]
rs1381856	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16957244	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16957250	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16957264	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1972447	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1993813	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2035170	0.81[EUR][1000 genomes]
rs2054389	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126602	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2412746	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2412747	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2682073	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899069	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3784265	0.81[EUR][1000 genomes]
rs3803341	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4244590	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4338775	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4509988	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4573908	0.81[EUR][1000 genomes]
rs4923955	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4924701	0.87[EUR][1000 genomes]
rs4924704	0.82[EUR][1000 genomes]
rs55805543	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60763334	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6416436	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493071	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493074	0.84[AMR][1000 genomes]
rs6493076	0.82[EUR][1000 genomes]
rs6493077	0.81[EUR][1000 genomes]
rs66530524	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7162939	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7162959	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7174028	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178567	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8027733	0.81[EUR][1000 genomes]
rs8031767	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8037022	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8042481	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920498	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9920904	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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
10	esv3408090	chr15:43172709-43207571	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3366604	chr15:43172709-43210677	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3408604	chr15:43175709-43207571	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2733224	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43182800-43207000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:43183200-43211600	Weak transcription	Left Ventricle	heart
3	chr15:43183800-43207200	Weak transcription	Ovary	ovary
4	chr15:43184200-43207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:43185600-43207000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43187000-43207600	Weak transcription	Primary B cells from cord blood	blood
7	chr15:43187000-43211600	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:43187200-43210600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:43187400-43206600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:43189200-43211600	Weak transcription	Fetal Intestine Small	intestine
11	chr15:43196000-43211600	Weak transcription	Small Intestine	intestine
12	chr15:43196200-43206200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:43196200-43207000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:43196200-43211400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:43196400-43207000	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:43196400-43207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:43196400-43211600	Weak transcription	Right Atrium	heart
18	chr15:43196400-43211600	Weak transcription	Right Ventricle	heart
19	chr15:43196600-43211800	Weak transcription	Fetal Stomach	stomach
20	chr15:43201000-43211600	Weak transcription	Aorta	Aorta
21	chr15:43201600-43207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:43201600-43210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:43201800-43207200	Weak transcription	K562	blood
24	chr15:43201800-43210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:43201800-43210400	Weak transcription	NHEK	skin
26	chr15:43202200-43207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:43202200-43211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:43203200-43206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:43203200-43207000	Weak transcription	Brain Angular Gyrus	brain
30	chr15:43203400-43207200	Weak transcription	Thymus	Thymus
31	chr15:43203600-43207000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:43203600-43208200	Weak transcription	Psoas Muscle	Psoas
33	chr15:43203800-43207000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:43203800-43207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:43203800-43211600	Weak transcription	Placenta	Placenta
36	chr15:43203800-43211600	Weak transcription	Spleen	Spleen
37	chr15:43204000-43207000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:43204200-43207000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:43204200-43211400	Weak transcription	Fetal Heart	heart
40	chr15:43204400-43207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:43204400-43207200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:43204400-43207200	Weak transcription	HepG2	liver
43	chr15:43205400-43207000	Enhancers	Monocytes-CD14+_RO01746	blood

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