Variant report

Variant	rs8005022
Chromosome Location	chr14:37506115-37506116
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	chr14:37499430..37501111-chr14:37506004..37508252,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10047907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10047908	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129311	0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10131531	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10133042	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134363	0.82[EUR][1000 genomes]
rs10135756	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136164	0.84[AMR][1000 genomes]
rs10136755	0.95[CEU][hapmap];0.83[GIH][hapmap];0.81[EUR][1000 genomes]
rs10136870	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10137553	0.81[EUR][1000 genomes]
rs10137595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137611	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10140136	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs10140373	0.86[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10148080	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148097	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148351	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148406	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10148426	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11156932	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11156934	0.84[CHD][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap]
rs11620965	0.82[CHD][hapmap];0.94[MKK][hapmap];0.87[YRI][hapmap]
rs12433348	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12892728	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12894067	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12894251	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12897058	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1467484	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467488	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467491	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555333	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106133	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1950816	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]
rs1955756	0.87[YRI][hapmap]
rs1956422	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1956425	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2022726	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2057271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2180600	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.93[ASN][1000 genomes]
rs2415374	0.93[ASN][1000 genomes]
rs2415375	0.93[ASN][1000 genomes]
rs2415376	0.92[ASN][1000 genomes]
rs2415377	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415378	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28411825	0.82[EUR][1000 genomes]
rs28437272	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28466578	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28796569	0.82[EUR][1000 genomes]
rs28826308	0.82[EUR][1000 genomes]
rs34592617	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35844261	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36105433	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4328351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4408459	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56113646	0.82[EUR][1000 genomes]
rs6571773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571774	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6571775	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571778	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571779	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571780	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7142225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs714268	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs714269	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146275	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7149154	0.91[CEU][hapmap];0.83[GIH][hapmap];0.81[EUR][1000 genomes]
rs7149490	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153530	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160964	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7359049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008912	0.89[ASN][1000 genomes]
rs8009178	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011174	0.91[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8011715	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]
rs8014426	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016428	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8017060	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8022248	0.88[CHB][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9743793	0.82[EUR][1000 genomes]
rs9806037	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs9888610	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919903	0.82[EUR][1000 genomes];0.93[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
rs8005022	PPP2R3C	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37503600-37506200	Enhancers	HSMMtube	muscle
2	chr14:37503600-37506200	Enhancers	NH-A	brain
3	chr14:37503600-37506400	Enhancers	Osteobl	bone
4	chr14:37503600-37507000	Enhancers	HUVEC	blood vessel
5	chr14:37503800-37506400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:37503800-37506400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:37503800-37506400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:37503800-37506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:37503800-37506600	Enhancers	HSMM	muscle
10	chr14:37503800-37507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:37503800-37507600	Enhancers	NHDF-Ad	bronchial
12	chr14:37504000-37507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:37504400-37506200	Enhancers	NHEK	skin
14	chr14:37504600-37508200	Enhancers	HepG2	liver
15	chr14:37504800-37506200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:37504800-37507400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:37504800-37508400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:37505000-37507000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:37505000-37507000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:37505200-37507600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:37505200-37507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:37505200-37509000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:37505400-37507000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:37505400-37507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:37505600-37506600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:37505600-37507400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:37506000-37506600	Enhancers	A549	lung
28	chr14:37506000-37506600	Enhancers	Hela-S3	cervix
29	chr14:37506000-37507200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:37506000-37507400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:37506000-37507600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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