Variant report

Variant	rs7162939
Chromosome Location	chr15:43230670-43230671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43227976..43230941-chr15:43258410..43260187,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1037990	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070382	0.98[EUR][1000 genomes]
rs11070386	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070387	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11070388	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11630595	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050596	0.83[EUR][1000 genomes]
rs12441352	0.84[EUR][1000 genomes]
rs12913617	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1381856	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16957244	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16957250	0.93[EUR][1000 genomes]
rs16957264	0.84[EUR][1000 genomes]
rs1972447	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1993813	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2035170	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2054389	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126602	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412746	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412747	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682073	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2733224	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2899069	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784265	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244590	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338775	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4509988	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4573908	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4923955	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924701	0.88[EUR][1000 genomes]
rs4924704	0.83[EUR][1000 genomes]
rs55805543	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60763334	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6416436	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493071	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6493074	0.81[AMR][1000 genomes]
rs6493076	0.83[EUR][1000 genomes]
rs6493077	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66530524	0.99[EUR][1000 genomes]
rs7162959	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7174028	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7178567	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8027733	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8031767	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8037022	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8042481	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9796571	0.84[ASN][1000 genomes]
rs9920498	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920904	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv974565	chr15:43225638-43234039	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7162939	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43222400-43236600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:43223600-43238400	Weak transcription	Ovary	ovary
3	chr15:43225800-43236000	Weak transcription	HUVEC	blood vessel
4	chr15:43225800-43247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:43226000-43242200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:43226400-43235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:43226600-43235400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:43226800-43233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:43227800-43236800	Weak transcription	Fetal Kidney	kidney
10	chr15:43228000-43232200	Weak transcription	HepG2	liver
11	chr15:43228200-43235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:43228200-43236000	Weak transcription	HMEC	breast
13	chr15:43228200-43237200	Weak transcription	NHEK	skin
14	chr15:43228200-43242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:43229200-43235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:43229200-43237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:43229400-43236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:43229800-43231600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:43229800-43231600	Weak transcription	Fetal Stomach	stomach
20	chr15:43229800-43235400	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:43229800-43235600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:43229800-43237400	Weak transcription	Brain Germinal Matrix	brain
23	chr15:43230000-43237400	Weak transcription	HSMMtube	muscle
24	chr15:43230200-43235400	Weak transcription	Fetal Lung	lung
25	chr15:43230200-43235400	Weak transcription	NH-A	brain
26	chr15:43230200-43236600	Weak transcription	Fetal Brain Female	brain
27	chr15:43230200-43237200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:43230200-43237400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:43230200-43237400	Weak transcription	Thymus	Thymus
30	chr15:43230200-43242400	Weak transcription	NHLF	lung
31	chr15:43230400-43235400	Weak transcription	Primary T cells from cord blood	blood
32	chr15:43230400-43236600	Weak transcription	Osteobl	bone
33	chr15:43230400-43237600	Weak transcription	Lung	lung
34	chr15:43230600-43235600	Weak transcription	Placenta	Placenta
35	chr15:43230600-43236000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:43230600-43236800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:43230600-43237400	Weak transcription	Aorta	Aorta
38	chr15:43230600-43238400	Weak transcription	Fetal Intestine Small	intestine

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