Variant report

Variant	rs12888272
Chromosome Location	chr14:35425602-35425603
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	chr14:35424726..35426528-chr14:35427204..35429694,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11156867	0.97[ASN][1000 genomes]
rs11156868	0.97[ASN][1000 genomes]
rs11850317	0.97[ASN][1000 genomes]
rs12050171	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12050267	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050390	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12050402	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12050404	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12050447	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12161905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588755	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12880809	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12880928	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12881698	0.82[ASN][1000 genomes]
rs12883971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886251	0.96[ASN][1000 genomes]
rs12887248	0.80[ASN][1000 genomes]
rs12890056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12890307	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12891343	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12892056	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12893021	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894365	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12894820	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895051	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895822	0.87[EUR][1000 genomes]
rs12896759	0.84[ASN][1000 genomes]
rs12897044	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102904	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102923	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102967	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17102970	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1967723	0.96[ASN][1000 genomes]
rs2273156	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273158	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2383688	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2383689	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28373355	0.96[ASN][1000 genomes]
rs34678475	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737707	0.80[ASN][1000 genomes]
rs34927714	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35030792	0.82[ASN][1000 genomes]
rs35090385	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35106382	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35337462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35797365	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35830406	0.97[ASN][1000 genomes]
rs35875778	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35962127	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36008567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36024417	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36112862	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4573843	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56686328	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56950244	0.89[ASN][1000 genomes]
rs60803103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140843	0.97[ASN][1000 genomes]
rs71409556	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141292	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71421920	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71421921	0.82[ASN][1000 genomes]
rs7143827	0.97[ASN][1000 genomes]
rs7144574	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7144617	0.82[ASN][1000 genomes]
rs7144646	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145608	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153068	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153331	0.82[ASN][1000 genomes]
rs7153550	0.82[ASN][1000 genomes]
rs7155696	0.82[ASN][1000 genomes]
rs74046408	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs761505	0.97[ASN][1000 genomes]
rs761506	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009646	0.86[EUR][1000 genomes]
rs8011422	0.94[ASN][1000 genomes]
rs8014327	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015622	0.82[ASN][1000 genomes]
rs8016566	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017191	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8017225	0.86[ASN][1000 genomes]
rs8018114	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8019179	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv901603	chr14:35371697-35435651	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
9	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
10	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
12	esv1802718	chr14:35400075-35429777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12888272	PPP2R3C	cis	Whole Blood	GTEx
rs12888272	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35400600-35427000	Weak transcription	Primary B cells from cord blood	blood
2	chr14:35401000-35428800	Weak transcription	GM12878-XiMat	blood
3	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:35401400-35428800	Weak transcription	Stomach Mucosa	stomach
5	chr14:35411000-35434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:35413200-35435200	Weak transcription	A549	lung
8	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:35413600-35435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:35414000-35435200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:35417400-35449400	Weak transcription	Dnd41	blood
12	chr14:35417600-35433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:35417800-35436800	Weak transcription	Osteobl	bone
14	chr14:35417800-35438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:35418400-35429600	Strong transcription	HepG2	liver
19	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
20	chr14:35419000-35430000	Strong transcription	Liver	Liver
21	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
22	chr14:35419200-35427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:35419200-35430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:35419400-35435000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:35419600-35426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:35419600-35434000	Weak transcription	K562	blood
27	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
28	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:35419800-35435000	Weak transcription	NH-A	brain
30	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
35	chr14:35420200-35428800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:35420200-35429600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
39	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
40	chr14:35421000-35427400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:35421000-35431400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr14:35421000-35437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:35421800-35428200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
48	chr14:35422000-35427400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:35423000-35426000	Strong transcription	Adipose Nuclei	Adipose

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