Variant report

Variant	rs6493074
Chromosome Location	chr15:43297183-43297184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1037990	0.83[AMR][1000 genomes]
rs11630595	0.84[AMR][1000 genomes]
rs12050596	0.81[AMR][1000 genomes]
rs1381856	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1462856	0.84[AMR][1000 genomes]
rs1972447	0.81[AMR][1000 genomes]
rs2035170	0.81[AMR][1000 genomes]
rs2054389	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2126602	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2733224	0.84[AMR][1000 genomes]
rs2899069	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3784265	0.81[AMR][1000 genomes]
rs3803341	0.81[AMR][1000 genomes]
rs4244590	0.88[AMR][1000 genomes]
rs4338775	0.83[AMR][1000 genomes]
rs4509988	0.88[AMR][1000 genomes]
rs4923955	0.96[AMR][1000 genomes]
rs4924701	0.80[AFR][1000 genomes]
rs4924704	0.81[AMR][1000 genomes]
rs6416436	0.81[AMR][1000 genomes]
rs6493071	0.86[AMR][1000 genomes]
rs6493076	0.84[AMR][1000 genomes]
rs6493077	0.84[AMR][1000 genomes]
rs7162939	0.81[AMR][1000 genomes]
rs7174028	0.88[AMR][1000 genomes]
rs7178567	0.88[AMR][1000 genomes]
rs8031767	0.86[AMR][1000 genomes]
rs8035894	0.82[ASN][1000 genomes]
rs8042481	0.87[AMR][1000 genomes]
rs9796571	0.82[AMR][1000 genomes]
rs9920498	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9920904	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6493074	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr15:43252400-43298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:43267200-43323000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:43269000-43298400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:43269000-43312800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:43269600-43300200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:43269800-43314800	Weak transcription	Fetal Brain Male	brain
10	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
11	chr15:43270400-43300600	Weak transcription	K562	blood
12	chr15:43275400-43298400	Weak transcription	Brain Angular Gyrus	brain
13	chr15:43276800-43300200	Weak transcription	HepG2	liver
14	chr15:43277000-43307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:43279600-43298400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:43279600-43298400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:43279600-43298400	Weak transcription	Colonic Mucosa	Colon
18	chr15:43279600-43300400	Weak transcription	Aorta	Aorta
19	chr15:43279600-43300400	Weak transcription	Esophagus	oesophagus
20	chr15:43281400-43299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:43281600-43300000	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:43281800-43300400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:43282000-43298600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:43282000-43300400	Weak transcription	NHLF	lung
25	chr15:43282600-43301400	Weak transcription	Psoas Muscle	Psoas
26	chr15:43287400-43346000	Weak transcription	A549	lung
27	chr15:43288000-43300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:43288800-43300400	Weak transcription	GM12878-XiMat	blood
29	chr15:43289400-43297200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:43289400-43298400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:43289400-43300400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:43289800-43307800	Weak transcription	Hela-S3	cervix
33	chr15:43291600-43306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:43292000-43300200	Weak transcription	NHEK	skin
35	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
36	chr15:43293200-43301000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:43293200-43307400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:43293400-43306000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:43294000-43306000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr15:43294200-43298400	Weak transcription	HSMM	muscle
41	chr15:43294200-43306200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:43294400-43298000	Strong transcription	Lung	lung
43	chr15:43294400-43301200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr15:43294400-43303400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:43294400-43304200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:43294400-43306200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:43294600-43297400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:43294600-43298000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:43294600-43300600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr15:43294800-43297400	Strong transcription	Rectal Mucosa Donor 31	rectum

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