Variant report

Variant	rs16957224
Chromosome Location	chr15:43145828-43145829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43138561..43141027-chr15:43143741..43146059,2	K562	blood:
2	chr15:43141386..43143078-chr15:43144642..43146770,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10220713	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10220718	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10220875	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10438302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070381	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12324838	1.00[EUR][1000 genomes]
rs12594858	1.00[EUR][1000 genomes]
rs1317628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs13380301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs16957043	0.81[JPT][hapmap]
rs16957052	1.00[MEX][hapmap]
rs16957125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16957138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16957178	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16957187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1915243	0.90[JPT][hapmap]
rs56894749	0.89[ASN][1000 genomes]
rs58506324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58754188	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58756153	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60753136	1.00[EUR][1000 genomes]
rs60789298	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60832391	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60881935	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61682243	0.89[ASN][1000 genomes]
rs6493058	1.00[MEX][hapmap]
rs7162040	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7163324	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7164041	0.84[ASW][hapmap]
rs7165249	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7174661	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7177501	0.92[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7181448	1.00[MEX][hapmap]
rs8023743	0.81[JPT][hapmap]
rs8027319	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8032994	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8039217	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8039346	1.00[JPT][hapmap]
rs8039438	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8043143	0.81[JPT][hapmap]
rs9806313	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	esv3400306	chr15:43135709-43164903	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16957224	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:43064800-43150800	Weak transcription	HSMM	muscle
3	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
9	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
10	chr15:43103000-43165400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:43114800-43172000	Weak transcription	Pancreas	Pancrea
13	chr15:43119600-43168200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:43119600-43172600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:43119800-43163200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:43119800-43170200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:43120000-43151000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:43125200-43151400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:43125400-43173600	Weak transcription	Hela-S3	cervix
20	chr15:43126000-43150600	Weak transcription	HMEC	breast
21	chr15:43131000-43165200	Weak transcription	Thymus	Thymus
22	chr15:43131600-43171800	Weak transcription	Brain Anterior Caudate	brain
23	chr15:43131800-43150800	Weak transcription	Fetal Heart	heart
24	chr15:43132000-43186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:43132200-43150000	Weak transcription	Placenta	Placenta
26	chr15:43132200-43150800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:43132200-43155600	Weak transcription	Liver	Liver
28	chr15:43132200-43162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:43132200-43166200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:43132400-43151600	Weak transcription	Brain Angular Gyrus	brain
31	chr15:43132400-43165400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:43132400-43172800	Weak transcription	Ovary	ovary
33	chr15:43132600-43171200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:43136400-43151400	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:43136600-43148200	Weak transcription	Fetal Lung	lung
36	chr15:43136600-43157000	Weak transcription	Adipose Nuclei	Adipose
37	chr15:43136600-43159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:43136600-43167200	Weak transcription	Dnd41	blood
39	chr15:43136800-43148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:43136800-43149000	Weak transcription	Fetal Stomach	stomach
41	chr15:43136800-43149600	Weak transcription	Psoas Muscle	Psoas
42	chr15:43136800-43150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:43136800-43151400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:43136800-43151600	Weak transcription	Fetal Brain Female	brain
45	chr15:43136800-43165200	Weak transcription	Brain Germinal Matrix	brain
46	chr15:43136800-43169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:43136800-43169200	Weak transcription	Fetal Intestine Small	intestine
48	chr15:43136800-43182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:43137000-43164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:43137200-43150200	Weak transcription	NHEK	skin

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