Variant report

Variant	rs2126602
Chromosome Location	chr15:43301476-43301477
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	chr15:43285221..43287358-chr15:43299885..43302016,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1037990	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070380	1.00[CEU][hapmap]
rs11070382	1.00[CEU][hapmap];0.94[MEX][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs11070386	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070387	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070388	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11070391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11630595	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11853250	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs12050596	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12899266	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs12905967	0.86[EUR][1000 genomes]
rs12913617	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1381856	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1462856	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16957244	1.00[CEU][hapmap];0.94[MEX][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs16957250	1.00[CEU][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes]
rs16957264	0.86[CEU][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap]
rs16957385	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1972447	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1993813	0.91[EUR][1000 genomes]
rs1996675	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2035170	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2054389	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2412746	0.91[EUR][1000 genomes]
rs2412747	0.91[EUR][1000 genomes]
rs2412752	0.93[JPT][hapmap]
rs2682073	1.00[CEU][hapmap];0.94[MEX][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes]
rs2733224	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28585036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2899069	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2947019	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs3736054	0.85[ASW][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3784265	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803341	1.00[CEU][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4244590	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4338775	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4509988	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4573908	1.00[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4923955	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4924701	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4924704	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs495286	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs497138	0.88[CEU][hapmap]
rs530305	0.88[CEU][hapmap]
rs531850	0.88[CEU][hapmap]
rs538218	0.88[CEU][hapmap]
rs540587	1.00[CEU][hapmap]
rs55805543	0.86[EUR][1000 genomes]
rs60763334	0.84[EUR][1000 genomes]
rs6416436	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6493071	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493074	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6493076	0.85[ASW][hapmap];1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6493077	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66530524	0.84[EUR][1000 genomes]
rs7162939	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7162959	0.81[EUR][1000 genomes]
rs7174028	1.00[CEU][hapmap];0.94[MEX][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7174915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7176116	0.88[EUR][1000 genomes]
rs7178567	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8027733	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8031767	1.00[CEU][hapmap];0.94[MEX][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8035894	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036710	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8037022	1.00[CEU][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs8042481	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9796571	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9920498	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9920904	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2126602	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
3	chr15:43267200-43323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:43269000-43312800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:43269800-43314800	Weak transcription	Fetal Brain Male	brain
7	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
8	chr15:43277000-43307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:43287400-43346000	Weak transcription	A549	lung
10	chr15:43289800-43307800	Weak transcription	Hela-S3	cervix
11	chr15:43291600-43306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
13	chr15:43293200-43307400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:43293400-43306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:43294000-43306000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:43294200-43306200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:43294400-43303400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:43294400-43304200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:43294400-43306200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:43295800-43303000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:43296200-43312800	Weak transcription	HMEC	breast
22	chr15:43296400-43302000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:43296400-43302400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:43296800-43306800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:43297000-43302600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:43297200-43303400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:43297400-43309800	Strong transcription	Fetal Muscle Leg	muscle
28	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:43298000-43306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:43298200-43301600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr15:43298200-43304000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:43298400-43301800	Strong transcription	Colonic Mucosa	Colon
33	chr15:43298400-43302000	Strong transcription	Liver	Liver
34	chr15:43298400-43302000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:43298400-43302000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:43298400-43302000	ZNF genes & repeats	Dnd41	blood
37	chr15:43298400-43302200	Strong transcription	HSMM	muscle
38	chr15:43298400-43302600	Strong transcription	Left Ventricle	heart
39	chr15:43298400-43302600	Strong transcription	NH-A	brain
40	chr15:43298400-43302800	Strong transcription	Primary T cells from cord blood	blood
41	chr15:43298400-43302800	Strong transcription	Placenta	Placenta
42	chr15:43298400-43302800	Strong transcription	Osteobl	bone
43	chr15:43298400-43304200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:43298400-43304200	Strong transcription	Fetal Lung	lung
45	chr15:43298400-43305200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:43298400-43305600	Strong transcription	Adipose Nuclei	Adipose
47	chr15:43298400-43306000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:43298400-43306000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:43298400-43306200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:43298400-43306200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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