Variant report

Variant	rs28369251
Chromosome Location	chr15:55790298-55790299
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	chr15:55609486..55611262-chr15:55788891..55791859,2	K562	blood:

Variant related genes	Relation type
ENSG00000069943	Chromatin interaction
ENSG00000225973	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10518810	1.00[ASN][1000 genomes]
rs1075938	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11732	1.00[ASN][1000 genomes]
rs12101327	1.00[ASN][1000 genomes]
rs12148255	1.00[ASN][1000 genomes]
rs12915831	1.00[ASN][1000 genomes]
rs13329586	1.00[ASN][1000 genomes]
rs16953240	1.00[ASN][1000 genomes]
rs16976307	1.00[ASN][1000 genomes]
rs16976314	1.00[ASN][1000 genomes]
rs16976351	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414412	1.00[ASN][1000 genomes]
rs28378485	1.00[ASN][1000 genomes]
rs28413009	1.00[ASN][1000 genomes]
rs28483325	1.00[ASN][1000 genomes]
rs28636929	1.00[ASN][1000 genomes]
rs28653717	1.00[ASN][1000 genomes]
rs3203152	1.00[ASN][1000 genomes]
rs34473609	1.00[ASN][1000 genomes]
rs34482650	1.00[ASN][1000 genomes]
rs35396030	1.00[ASN][1000 genomes]
rs35768022	1.00[ASN][1000 genomes]
rs35928893	1.00[ASN][1000 genomes]
rs4294762	1.00[ASN][1000 genomes]
rs55706848	1.00[ASN][1000 genomes]
rs56340826	1.00[ASN][1000 genomes]
rs56760921	1.00[ASN][1000 genomes]
rs57094422	0.86[ASN][1000 genomes]
rs57412310	1.00[ASN][1000 genomes]
rs57489605	1.00[ASN][1000 genomes]
rs57648583	1.00[ASN][1000 genomes]
rs57809907	1.00[ASN][1000 genomes]
rs58053176	1.00[ASN][1000 genomes]
rs58220352	1.00[ASN][1000 genomes]
rs58447274	1.00[ASN][1000 genomes]
rs58507025	1.00[ASN][1000 genomes]
rs58550265	1.00[ASN][1000 genomes]
rs58581371	1.00[ASN][1000 genomes]
rs58697860	1.00[ASN][1000 genomes]
rs58734748	1.00[ASN][1000 genomes]
rs58743089	1.00[ASN][1000 genomes]
rs59228226	1.00[ASN][1000 genomes]
rs59562815	1.00[ASN][1000 genomes]
rs60003039	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60071399	1.00[ASN][1000 genomes]
rs60439248	1.00[ASN][1000 genomes]
rs60561373	1.00[ASN][1000 genomes]
rs60755763	1.00[ASN][1000 genomes]
rs60925254	1.00[ASN][1000 genomes]
rs61069460	1.00[ASN][1000 genomes]
rs6493780	1.00[ASN][1000 genomes]
rs6493781	1.00[ASN][1000 genomes]
rs71476716	1.00[ASN][1000 genomes]
rs71476717	1.00[ASN][1000 genomes]
rs71476718	1.00[ASN][1000 genomes]
rs71476719	1.00[ASN][1000 genomes]
rs7161981	1.00[ASN][1000 genomes]
rs7162724	1.00[ASN][1000 genomes]
rs7164158	1.00[ASN][1000 genomes]
rs7164895	1.00[ASN][1000 genomes]
rs7164984	1.00[ASN][1000 genomes]
rs7168455	1.00[ASN][1000 genomes]
rs7168882	1.00[ASN][1000 genomes]
rs7169460	1.00[ASN][1000 genomes]
rs7170157	1.00[ASN][1000 genomes]
rs7170970	1.00[ASN][1000 genomes]
rs7173562	1.00[ASN][1000 genomes]
rs7176013	1.00[ASN][1000 genomes]
rs7177888	1.00[ASN][1000 genomes]
rs7181226	1.00[ASN][1000 genomes]
rs7181805	1.00[ASN][1000 genomes]
rs7181999	1.00[ASN][1000 genomes]
rs73406912	1.00[ASN][1000 genomes]
rs73406921	1.00[ASN][1000 genomes]
rs73406928	1.00[ASN][1000 genomes]
rs73406986	1.00[ASN][1000 genomes]
rs73408827	1.00[ASN][1000 genomes]
rs73411030	0.95[EUR][1000 genomes]
rs73421633	1.00[ASN][1000 genomes]
rs73421665	1.00[ASN][1000 genomes]
rs74015572	1.00[ASN][1000 genomes]
rs8023354	1.00[ASN][1000 genomes]
rs8026454	1.00[ASN][1000 genomes]
rs8027135	0.86[ASN][1000 genomes]
rs8028482	1.00[ASN][1000 genomes]
rs8029077	1.00[ASN][1000 genomes]
rs8029258	1.00[ASN][1000 genomes]
rs8031507	1.00[ASN][1000 genomes]
rs8031625	0.86[ASN][1000 genomes]
rs8034029	1.00[ASN][1000 genomes]
rs8039224	1.00[ASN][1000 genomes]
rs8040840	1.00[ASN][1000 genomes]
rs8041044	1.00[ASN][1000 genomes]
rs8041349	1.00[ASN][1000 genomes]
rs8041382	1.00[ASN][1000 genomes]
rs8041885	1.00[ASN][1000 genomes]
rs8042642	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv833016	chr15:55749169-55897906	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv817693	chr15:55788832-55809660	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28369251	CCPG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55789600-55791400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:55789800-55790400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:55789800-55790400	Flanking Active TSS	Fetal Brain Female	brain
4	chr15:55789800-55790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:55789800-55790600	Flanking Active TSS	HUVEC	blood vessel
6	chr15:55789800-55791000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:55789800-55791000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:55789800-55791000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:55789800-55791000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:55789800-55791000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:55789800-55791000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:55789800-55791000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:55789800-55791000	Active TSS	Fetal Lung	lung
14	chr15:55789800-55791200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:55789800-55791200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:55789800-55791200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:55789800-55791200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:55789800-55791200	Active TSS	Brain Germinal Matrix	brain
19	chr15:55789800-55791200	Active TSS	Colon Smooth Muscle	Colon
20	chr15:55789800-55791200	Active TSS	HMEC	breast
21	chr15:55789800-55791400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:55789800-55791400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:55789800-55791800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:55790000-55790400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr15:55790000-55790400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr15:55790000-55790400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:55790000-55790400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr15:55790000-55790400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:55790000-55790400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:55790000-55790400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr15:55790000-55790400	Flanking Active TSS	Liver	Liver
32	chr15:55790000-55790400	Flanking Active TSS	Fetal Heart	heart
33	chr15:55790000-55790400	Flanking Active TSS	NHEK	skin
34	chr15:55790000-55790400	Flanking Active TSS	Osteobl	bone
35	chr15:55790000-55790600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr15:55790000-55790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:55790000-55790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:55790000-55790600	Active TSS	Stomach Mucosa	stomach
39	chr15:55790000-55790800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:55790000-55790800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:55790000-55790800	Active TSS	Ovary	ovary
42	chr15:55790000-55790800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr15:55790000-55791000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr15:55790000-55791000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr15:55790000-55791000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:55790000-55791000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr15:55790000-55791000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:55790000-55791000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:55790000-55791000	Active TSS	Brain Angular Gyrus	brain
50	chr15:55790000-55791000	Active TSS	Brain Hippocampus Middle	brain

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