Variant report

Variant	rs1950816
Chromosome Location	chr14:37499904-37499905
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	chr14:37498607..37500171-chr14:37503819..37505728,2	MCF-7	breast:
2	chr14:37499430..37501111-chr14:37506004..37508252,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10047907	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10047908	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10129311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131531	0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10133042	0.86[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10134363	0.95[EUR][1000 genomes]
rs10136164	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136755	0.86[CEU][hapmap]
rs10136870	0.81[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10137553	0.94[EUR][1000 genomes]
rs10137595	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10137611	0.86[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs10140136	0.95[CEU][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs10140373	0.85[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148080	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148311	0.83[ASW][hapmap];0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10148351	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10148406	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148426	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11156932	0.81[EUR][1000 genomes]
rs12050275	0.83[ASW][hapmap]
rs12433348	0.83[ASW][hapmap];0.91[CEU][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap]
rs12894067	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs12894251	0.82[EUR][1000 genomes]
rs1467484	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467485	0.90[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467486	0.91[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467487	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1467488	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1467489	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467490	0.90[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467491	0.86[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467492	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467493	0.90[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1555333	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17106133	0.82[EUR][1000 genomes]
rs1956422	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs1956425	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs2022584	0.83[ASW][hapmap]
rs2022726	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs2057271	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180600	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap]
rs2415377	0.80[EUR][1000 genomes]
rs2415378	0.83[ASW][hapmap];0.91[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap]
rs28411825	0.95[EUR][1000 genomes]
rs28437272	0.81[EUR][1000 genomes]
rs28796569	0.94[EUR][1000 genomes]
rs28826308	0.95[EUR][1000 genomes]
rs35844261	0.82[EUR][1000 genomes]
rs4328351	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4408459	0.86[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs56113646	0.95[EUR][1000 genomes]
rs59676376	0.90[EUR][1000 genomes]
rs6571773	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs6571774	0.82[EUR][1000 genomes]
rs6571775	0.86[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs6571778	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs6571780	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs7141528	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7142225	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes]
rs714268	0.91[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7149154	0.81[CEU][hapmap]
rs7149490	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap]
rs7153530	0.91[CEU][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7160964	0.82[EUR][1000 genomes]
rs7359049	0.91[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7359050	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8004339	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8005022	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8009178	0.91[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs8011174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011715	0.86[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs8014426	0.80[EUR][1000 genomes]
rs8016428	0.82[EUR][1000 genomes]
rs8022248	0.82[EUR][1000 genomes]
rs911008	0.83[ASW][hapmap]
rs9743502	0.92[EUR][1000 genomes]
rs9743793	0.95[EUR][1000 genomes]
rs9806037	0.83[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs9888610	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1950816	PPP2R3C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37494800-37503400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:37499800-37500400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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