Variant report

Variant	rs12148255
Chromosome Location	chr15:55641595-55641596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:55635337-55643349	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55610603..55613441-chr15:55640435..55642887,3	K562	blood:
2	chr15:55488451..55490602-chr15:55640573..55642962,2	MCF-7	breast:
3	chr15:55489042..55491644-chr15:55640711..55643190,2	K562	blood:
4	chr15:55641538..55644525-chr15:55662930..55665274,2	MCF-7	breast:
5	chr15:55641489..55644289-chr15:55644644..55647294,3	MCF-7	breast:
6	chr15:55639076..55640732-chr15:55640931..55642557,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIGB	TF binding region
CCPG1	TF binding region
ENSG00000207964	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000225973	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000260916	Chromatin interaction
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10518810	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075938	1.00[ASN][1000 genomes]
rs11732	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899120	1.00[ASN][1000 genomes]
rs12901464	1.00[ASN][1000 genomes]
rs12902233	1.00[ASN][1000 genomes]
rs12903378	1.00[ASN][1000 genomes]
rs12907135	1.00[ASN][1000 genomes]
rs12909207	1.00[ASN][1000 genomes]
rs12911948	1.00[ASN][1000 genomes]
rs12915831	1.00[ASN][1000 genomes]
rs13329586	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953240	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976307	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976314	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976351	1.00[ASN][1000 genomes]
rs2414412	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369251	1.00[ASN][1000 genomes]
rs28378485	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28413009	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28483325	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28636929	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653717	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3203152	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473609	1.00[ASN][1000 genomes]
rs34482650	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34659706	1.00[ASN][1000 genomes]
rs34855466	1.00[ASN][1000 genomes]
rs35396030	1.00[ASN][1000 genomes]
rs35720996	1.00[ASN][1000 genomes]
rs35768022	1.00[ASN][1000 genomes]
rs35879962	1.00[ASN][1000 genomes]
rs35928893	1.00[ASN][1000 genomes]
rs36119525	1.00[ASN][1000 genomes]
rs4294762	1.00[ASN][1000 genomes]
rs55706848	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56340826	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56760921	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57094422	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57412310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57489605	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57648583	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57809907	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58013690	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58053176	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58220352	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58447274	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58507025	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58550265	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58581371	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58697860	1.00[ASN][1000 genomes]
rs58734748	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58743089	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59228226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59562815	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60003039	1.00[ASN][1000 genomes]
rs60071399	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60439248	1.00[ASN][1000 genomes]
rs60561373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60755763	1.00[ASN][1000 genomes]
rs60925254	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61069460	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493780	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493781	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71476714	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	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164158	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164984	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168455	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168869	0.81[EUR][1000 genomes]
rs7168882	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169460	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170157	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170970	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173562	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176013	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177888	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181226	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7181805	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181999	1.00[ASN][1000 genomes]
rs73406912	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406921	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406928	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406986	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408805	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73408809	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73408827	1.00[ASN][1000 genomes]
rs73421623	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73421633	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421665	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74015572	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023354	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026454	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027135	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8028482	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029077	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029258	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031507	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031625	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8034029	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040840	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041044	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041349	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041382	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041885	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042642	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043415	0.81[EUR][1000 genomes]

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	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	nsv904243	chr15:55627528-55734158	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12148255	CCPG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55611800-55699400	Weak transcription	Colonic Mucosa	Colon
2	chr15:55612000-55665000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:55612000-55671000	Weak transcription	Right Ventricle	heart
4	chr15:55612000-55671000	Weak transcription	Small Intestine	intestine
5	chr15:55612600-55650200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:55612600-55663600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:55612600-55675600	Weak transcription	Aorta	Aorta
8	chr15:55612800-55649600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:55612800-55677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:55614800-55649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:55620400-55658000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:55623000-55652600	Weak transcription	Psoas Muscle	Psoas
13	chr15:55623400-55642200	Weak transcription	Hela-S3	cervix
14	chr15:55623800-55660200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:55624000-55642800	Weak transcription	Esophagus	oesophagus
16	chr15:55625200-55643000	Strong transcription	Primary T cells from cord blood	blood
17	chr15:55626000-55649600	Weak transcription	HUVEC	blood vessel
18	chr15:55628600-55647800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:55630000-55695000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:55630200-55649000	Weak transcription	Osteobl	bone
21	chr15:55630400-55644400	Weak transcription	A549	lung
22	chr15:55630400-55654600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:55630400-55675600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:55630600-55648000	Weak transcription	HepG2	liver
25	chr15:55630600-55655800	Weak transcription	Brain Angular Gyrus	brain
26	chr15:55630600-55660200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:55630600-55663200	Weak transcription	Fetal Lung	lung
28	chr15:55630600-55667800	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:55630600-55668400	Weak transcription	Brain Substantia Nigra	brain
30	chr15:55630800-55647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:55630800-55652400	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:55630800-55683600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:55631000-55667800	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:55631200-55644600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:55631200-55646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:55631200-55663200	Weak transcription	Pancreas	Pancrea
37	chr15:55631200-55674000	Weak transcription	Placenta	Placenta
38	chr15:55631800-55649600	Weak transcription	NH-A	brain
39	chr15:55632000-55646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:55633400-55646400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:55633600-55667200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:55635000-55643600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:55635800-55675200	Weak transcription	Fetal Brain Male	brain
44	chr15:55636000-55641600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:55636200-55645000	Weak transcription	Fetal Kidney	kidney
46	chr15:55636200-55647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:55636400-55644400	Weak transcription	Brain Anterior Caudate	brain
48	chr15:55636400-55646600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr15:55636600-55649000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:55636600-55657000	Weak transcription	Fetal Brain Female	brain

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