Variant report

Variant	rs10134914
Chromosome Location	chr14:35425012-35425013
allele	G/T
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: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10130069	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10130509	0.89[ASN][1000 genomes]
rs10130773	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10134907	0.85[ASN][1000 genomes]
rs10136059	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10140135	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10142667	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10142861	0.85[ASN][1000 genomes]
rs10143485	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144430	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145723	0.90[ASN][1000 genomes]
rs10146407	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10146699	0.87[ASN][1000 genomes]
rs10148691	0.81[ASN][1000 genomes]
rs10151273	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151720	0.98[ASN][1000 genomes]
rs1028448	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11156871	0.87[ASN][1000 genomes]
rs11540758	0.85[ASN][1000 genomes]
rs12435454	0.88[ASN][1000 genomes]
rs12436971	0.91[ASN][1000 genomes]
rs12588810	0.81[ASN][1000 genomes]
rs13379372	0.87[ASN][1000 genomes]
rs1568200	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17102962	0.86[ASN][1000 genomes]
rs2038254	0.90[ASN][1000 genomes]
rs2254990	0.88[ASN][1000 genomes]
rs2273154	0.98[ASN][1000 genomes]
rs2273157	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295103	0.82[ASN][1000 genomes]
rs2383693	0.85[ASN][1000 genomes]
rs28384418	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28395170	0.83[ASN][1000 genomes]
rs28404080	0.80[ASN][1000 genomes]
rs28535942	0.87[ASN][1000 genomes]
rs28569331	0.87[ASN][1000 genomes]
rs28577270	0.85[ASN][1000 genomes]
rs28589276	0.87[ASN][1000 genomes]
rs28870452	0.81[ASN][1000 genomes]
rs3759548	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3809448	0.82[ASN][1000 genomes]
rs3885855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45531432	0.87[ASN][1000 genomes]
rs4981258	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4982234	0.89[ASN][1000 genomes]
rs4982235	0.88[ASN][1000 genomes]
rs4982236	0.88[ASN][1000 genomes]
rs60152856	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61100068	0.97[ASN][1000 genomes]
rs61191004	0.81[ASN][1000 genomes]
rs7141261	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146776	0.85[EUR][1000 genomes]
rs7147571	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10134914	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35396400-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:35400600-35427000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:35401000-35428800	Weak transcription	GM12878-XiMat	blood
4	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:35401400-35428800	Weak transcription	Stomach Mucosa	stomach
6	chr14:35403200-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:35403600-35425200	Weak transcription	Gastric	stomach
8	chr14:35408200-35425400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:35410000-35425200	Weak transcription	Right Ventricle	heart
10	chr14:35411000-35434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:35413000-35425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:35413200-35435200	Weak transcription	A549	lung
14	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:35413600-35435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:35414000-35435200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:35414400-35425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:35414400-35425200	Weak transcription	Aorta	Aorta
19	chr14:35414400-35425200	Weak transcription	Lung	lung
20	chr14:35414400-35425200	Weak transcription	Ovary	ovary
21	chr14:35417400-35449400	Weak transcription	Dnd41	blood
22	chr14:35417600-35433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:35417800-35436800	Weak transcription	Osteobl	bone
24	chr14:35417800-35438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:35418400-35429600	Strong transcription	HepG2	liver
29	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
30	chr14:35419000-35430000	Strong transcription	Liver	Liver
31	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
32	chr14:35419200-35425200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:35419200-35427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:35419200-35430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:35419400-35435000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:35419600-35426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:35419600-35434000	Weak transcription	K562	blood
38	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
39	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:35419800-35425200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:35419800-35435000	Weak transcription	NH-A	brain
42	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:35420000-35425200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
48	chr14:35420200-35425200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:35420200-35428800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:35420200-35429600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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