Variant report

Variant	rs11630595
Chromosome Location	chr15:43310121-43310122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1037990	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070380	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs11070382	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11070386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070387	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070388	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070391	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs12050596	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12899266	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs12905967	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12913617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1381856	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1462856	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16957244	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs16957250	1.00[CEU][hapmap]
rs16957264	0.88[CEU][hapmap]
rs16957385	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1972447	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1993813	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996675	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2035170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037392	0.82[CEU][hapmap]
rs2054389	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2126602	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412746	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412747	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2412752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2682073	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2733224	0.81[EUR][1000 genomes]
rs28585036	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2899069	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2899077	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs2947019	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs3736054	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3784265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4244590	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4338775	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4509988	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4573908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924701	0.89[EUR][1000 genomes]
rs4924704	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs494863	0.89[CEU][hapmap];0.95[CHB][hapmap]
rs495286	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs497138	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs530305	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs531850	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs538218	0.89[CEU][hapmap];0.94[CHB][hapmap]
rs540587	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs55805543	0.80[EUR][1000 genomes]
rs60763334	0.83[EUR][1000 genomes]
rs6416436	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493071	0.83[EUR][1000 genomes]
rs6493074	0.84[AMR][1000 genomes]
rs6493076	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6493077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66530524	0.83[EUR][1000 genomes]
rs7162939	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7162959	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7174028	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7174915	1.00[CEU][hapmap]
rs7176116	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7178567	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8027371	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs8027733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031767	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs8035894	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8036710	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8037022	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8042481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9796571	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9920498	0.89[EUR][1000 genomes]
rs9920904	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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
27	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	esv3424045	chr15:43309613-43310141	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11630595	CCNDBP1	cis	Lymphoblastoid	GTEx
rs11630595	CCNDBP1	cis	multi-tissue	Pritchard
rs11630595	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	chr15:43287400-43346000	Weak transcription	A549	lung
9	chr15:43292000-43316000	Weak transcription	Fetal Heart	heart
10	chr15:43296200-43312800	Weak transcription	HMEC	breast
11	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:43298600-43346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:43298800-43346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43299000-43312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:43299400-43346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:43299600-43313400	Weak transcription	NHDF-Ad	bronchial
17	chr15:43300800-43312400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:43301400-43313400	Weak transcription	K562	blood
19	chr15:43301400-43314800	Weak transcription	HepG2	liver
20	chr15:43301600-43312400	Weak transcription	Brain Substantia Nigra	brain
21	chr15:43301600-43321400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:43301800-43310200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:43301800-43311000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:43301800-43312200	Weak transcription	Right Ventricle	heart
25	chr15:43301800-43318800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:43301800-43343800	Weak transcription	Psoas Muscle	Psoas
27	chr15:43301800-43345800	Weak transcription	Colonic Mucosa	Colon
28	chr15:43301800-43345800	Weak transcription	Pancreas	Pancrea
29	chr15:43301800-43385800	Weak transcription	Gastric	stomach
30	chr15:43302000-43310400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:43302000-43310800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:43302000-43312600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:43302000-43312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:43302200-43312000	Weak transcription	HSMM	muscle
35	chr15:43302200-43312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:43302800-43312600	Weak transcription	Fetal Kidney	kidney
37	chr15:43303400-43312600	Weak transcription	Ovary	ovary
38	chr15:43303400-43316000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:43303400-43345800	Weak transcription	Aorta	Aorta
40	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
41	chr15:43304000-43312000	Weak transcription	Fetal Thymus	thymus
42	chr15:43304600-43318200	Strong transcription	Placenta	Placenta
43	chr15:43305600-43318600	Strong transcription	Fetal Brain Female	brain
44	chr15:43306000-43312600	Weak transcription	Brain Anterior Caudate	brain
45	chr15:43306000-43312600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:43306000-43313000	Strong transcription	Fetal Stomach	stomach
47	chr15:43306800-43331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:43307200-43331000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:43307400-43310200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:43307400-43310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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