Variant report

Variant	rs1474199
Chromosome Location	chr15:43482127-43482128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43482069-43482254	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43481401-43482629	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43476179..43479249-chr15:43481666..43485060,6	K562	blood:
2	chr15:43480701..43484189-chr15:43499859..43502784,3	K562	blood:

Variant related genes	Relation type
CCNDBP1	TF binding region
ENSG00000261687	TF binding region
ENSG00000166946	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000261687	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467909	1.00[EUR][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2271965	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7171797	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	0.87[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs8039342	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv1793290	chr15:43479328-43487742	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1474199	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43482200	Weak transcription	Pancreas	Pancrea
2	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:43478800-43482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:43478800-43482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:43478800-43482200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:43478800-43482200	Weak transcription	NH-A	brain
9	chr15:43478800-43486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:43478800-43487000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:43479000-43483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:43479000-43488600	Weak transcription	Fetal Kidney	kidney
14	chr15:43479400-43484800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:43479600-43484800	Weak transcription	HepG2	liver
16	chr15:43480000-43482200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr15:43480200-43489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:43480200-43490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:43480200-43490000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:43480200-43490000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:43480200-43490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:43480400-43482200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:43480400-43482800	Strong transcription	A549	lung
24	chr15:43480400-43484400	Weak transcription	Stomach Mucosa	stomach
25	chr15:43480400-43486600	Strong transcription	NHDF-Ad	bronchial
26	chr15:43480400-43487200	Strong transcription	Primary T cells from cord blood	blood
27	chr15:43480400-43489800	Strong transcription	Placenta	Placenta
28	chr15:43480400-43490200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:43480400-43491200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:43480400-43491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:43480600-43483000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:43480600-43489800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:43480600-43490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:43480800-43483000	Weak transcription	Small Intestine	intestine
35	chr15:43480800-43484400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:43480800-43486000	Strong transcription	Fetal Brain Female	brain
37	chr15:43480800-43489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:43480800-43489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:43480800-43490200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr15:43480800-43491400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:43481000-43487400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:43481000-43490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:43481000-43490600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:43481200-43485600	Strong transcription	Fetal Intestine Large	intestine
45	chr15:43481200-43485800	Strong transcription	Fetal Muscle Leg	muscle
46	chr15:43481200-43487000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr15:43481200-43488200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:43481200-43489800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:43481200-43490000	Strong transcription	Thymus	Thymus
50	chr15:43481400-43482200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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