Variant report

Variant	rs8011715
Chromosome Location	chr14:37530417-37530418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37528200..37530680-chr14:37600178..37602513,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10047907	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10047908	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10129311	0.85[JPT][hapmap]
rs10131531	0.89[ASN][1000 genomes]
rs10133042	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135756	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136755	1.00[CEU][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs10136870	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137539	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs10137595	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10137611	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139726	0.85[EUR][1000 genomes]
rs10140136	0.81[CEU][hapmap]
rs10140373	0.81[CEU][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs10143832	0.84[EUR][1000 genomes]
rs10148080	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs10148311	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148351	0.88[ASN][1000 genomes]
rs10148426	0.85[ASN][1000 genomes]
rs10483486	0.81[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs11156932	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11156934	0.84[CHD][hapmap]
rs11620965	0.82[CHD][hapmap]
rs12433348	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879259	0.81[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs12892230	0.85[EUR][1000 genomes]
rs12892728	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12894067	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894251	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12897058	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12897101	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs13353107	0.84[EUR][1000 genomes]
rs1467484	0.90[ASN][1000 genomes]
rs1467485	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1467486	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1467487	0.90[ASN][1000 genomes]
rs1467488	0.90[ASN][1000 genomes]
rs1467489	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1467490	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1467491	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1467492	0.90[ASN][1000 genomes]
rs1467493	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1535239	0.84[EUR][1000 genomes]
rs1555333	0.90[ASN][1000 genomes]
rs17106133	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17106164	0.82[GIH][hapmap];0.84[TSI][hapmap]
rs1950816	0.86[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs1956422	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956425	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022726	0.81[CEU][hapmap]
rs2180600	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415374	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415375	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415376	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415377	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415378	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437272	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28466578	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34592617	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35341876	0.84[EUR][1000 genomes]
rs35844261	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36105433	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4328351	0.90[ASN][1000 genomes]
rs4408459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58079830	0.85[EUR][1000 genomes]
rs6571773	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571774	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571775	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571776	0.81[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs6571778	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571779	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6571780	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141528	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7142225	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs714268	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs714269	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143414	0.81[CEU][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs7146275	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149154	0.95[CEU][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs7149490	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153530	0.95[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs7160964	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7359049	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7359050	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004339	0.90[ASN][1000 genomes]
rs8005022	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[ASN][1000 genomes]
rs8008894	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs8008912	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8009178	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011174	0.86[CEU][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs8014426	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014914	0.97[EUR][1000 genomes]
rs8015845	0.81[CEU][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs8016428	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016567	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs8017060	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022248	0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806037	0.81[CEU][hapmap]
rs9888610	0.88[ASN][1000 genomes]
rs9919903	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1036201	chr14:37498841-37542041	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1037719	chr14:37498841-37546359	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv526786	chr14:37499904-37537352	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1048854	chr14:37505438-37546359	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8011715	PPP2R3C	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37527200-37539800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:37528600-37530800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:37528800-37531200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:37529000-37530600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:37529000-37530800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:37529200-37531600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:37529600-37530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:37529600-37531400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:37529800-37530600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:37529800-37530800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr14:37529800-37531600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:37529800-37531600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:37530000-37530600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:37530000-37530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:37530000-37531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:37530200-37530600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:37530200-37530600	Enhancers	Lung	lung
18	chr14:37530400-37531200	Enhancers	Esophagus	oesophagus

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