Variant report

Variant	rs8015644
Chromosome Location	chr14:71842729-71842730
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	chr14:71826599..71830201-chr14:71841493..71843609,3	K562	blood:
2	chr14:71826599..71830607-chr14:71841838..71843609,3	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10483836	0.80[EUR][1000 genomes]
rs11627918	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs11845249	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs11848785	0.84[EUR][1000 genomes]
rs12127	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878989	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12879243	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs12880291	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12880611	0.87[EUR][1000 genomes]
rs12881643	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12881957	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12884929	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12887261	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889866	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs12891975	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892512	0.80[EUR][1000 genomes]
rs12894016	0.86[EUR][1000 genomes]
rs12894478	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12896900	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12896986	0.87[EUR][1000 genomes]
rs14030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17178045	0.83[EUR][1000 genomes]
rs17178206	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs17178234	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17178387	0.86[EUR][1000 genomes]
rs17767386	0.84[EUR][1000 genomes]
rs17767392	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs17767398	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17767410	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs17767446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767499	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17767523	0.87[EUR][1000 genomes]
rs17767553	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17767680	0.80[EUR][1000 genomes]
rs17767686	0.80[EUR][1000 genomes]
rs1981588	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap]
rs1990241	0.84[EUR][1000 genomes]
rs2108049	0.87[EUR][1000 genomes]
rs2108057	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2108706	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs2108707	0.87[EUR][1000 genomes]
rs2109276	0.87[EUR][1000 genomes]
rs2286409	0.91[ASW][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap]
rs2877729	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs33994051	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34011442	0.86[EUR][1000 genomes]
rs34057981	0.85[EUR][1000 genomes]
rs34061264	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34169215	0.80[EUR][1000 genomes]
rs34176710	0.86[EUR][1000 genomes]
rs34281405	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34281934	0.89[EUR][1000 genomes]
rs34320622	0.87[EUR][1000 genomes]
rs34347034	0.86[EUR][1000 genomes]
rs34388001	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34454371	0.86[EUR][1000 genomes]
rs34469007	0.87[EUR][1000 genomes]
rs34480562	0.80[EUR][1000 genomes]
rs34524083	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34528013	0.84[EUR][1000 genomes]
rs34528131	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34533948	0.86[EUR][1000 genomes]
rs34649709	0.86[EUR][1000 genomes]
rs34674149	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs34725136	0.86[EUR][1000 genomes]
rs34746156	0.86[EUR][1000 genomes]
rs34748537	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34767050	0.88[EUR][1000 genomes]
rs34873919	0.84[EUR][1000 genomes]
rs34911660	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34957192	0.82[EUR][1000 genomes]
rs34991781	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34993988	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35051046	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35054229	0.89[EUR][1000 genomes]
rs35094946	0.86[EUR][1000 genomes]
rs35122644	0.86[EUR][1000 genomes]
rs35151594	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35231795	0.80[EUR][1000 genomes]
rs35260692	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35415083	0.80[EUR][1000 genomes]
rs35468256	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35589413	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35609708	0.85[EUR][1000 genomes]
rs35613269	0.87[EUR][1000 genomes]
rs35620527	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35621718	0.86[EUR][1000 genomes]
rs35625243	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35680546	0.86[EUR][1000 genomes]
rs35692397	0.83[EUR][1000 genomes]
rs35760654	0.80[EUR][1000 genomes]
rs35796129	0.86[EUR][1000 genomes]
rs35822724	0.87[EUR][1000 genomes]
rs35831373	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35854505	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35866366	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35971049	0.80[EUR][1000 genomes]
rs36052007	0.86[EUR][1000 genomes]
rs36057816	0.84[EUR][1000 genomes]
rs36072220	0.81[EUR][1000 genomes]
rs36093218	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784066	0.80[EUR][1000 genomes]
rs4453405	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4899394	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902938	0.80[EUR][1000 genomes]
rs55883127	0.80[EUR][1000 genomes]
rs56180634	0.84[EUR][1000 genomes]
rs56363446	0.84[EUR][1000 genomes]
rs56407721	0.90[EUR][1000 genomes]
rs61989367	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61989373	0.87[EUR][1000 genomes]
rs61989374	0.87[EUR][1000 genomes]
rs61989377	0.86[EUR][1000 genomes]
rs61989379	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61989382	0.86[EUR][1000 genomes]
rs61989383	0.80[EUR][1000 genomes]
rs61989386	0.86[EUR][1000 genomes]
rs61991199	0.86[EUR][1000 genomes]
rs61991200	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61991201	0.86[EUR][1000 genomes]
rs61991202	0.86[EUR][1000 genomes]
rs61991203	0.84[EUR][1000 genomes]
rs61991204	0.84[EUR][1000 genomes]
rs61991205	0.84[EUR][1000 genomes]
rs61991213	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61991243	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991246	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991247	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61991248	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61991249	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991250	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61991254	0.83[EUR][1000 genomes]
rs61991255	0.87[EUR][1000 genomes]
rs66645707	0.86[EUR][1000 genomes]
rs67489015	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68073803	0.86[EUR][1000 genomes]
rs7140354	0.84[EUR][1000 genomes]
rs7140501	0.92[CEU][hapmap]
rs7142180	0.84[EUR][1000 genomes]
rs7142214	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7142343	0.87[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs7145755	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7147434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7147668	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7152674	0.80[EUR][1000 genomes]
rs7152842	0.96[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];0.94[ASN][1000 genomes]
rs7156460	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7157241	0.80[EUR][1000 genomes]
rs722633	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs723966	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs725673	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs72728427	0.87[EUR][1000 genomes]
rs757850	0.80[EUR][1000 genomes]
rs8006300	0.83[EUR][1000 genomes]
rs8007068	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs8013161	0.84[EUR][1000 genomes]
rs8019721	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9672060	0.92[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8015644	PCNX	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71832200-71843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71833200-71843800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:71837400-71855800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:71837800-71843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:71839000-71844800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:71839000-71845200	Weak transcription	Brain Angular Gyrus	brain
7	chr14:71839200-71843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:71839600-71844600	Weak transcription	Primary B cells from cord blood	blood
9	chr14:71839600-71844600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:71839600-71844600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:71839600-71844800	Weak transcription	Hela-S3	cervix
12	chr14:71839600-71845600	Weak transcription	Small Intestine	intestine
13	chr14:71839600-71847000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:71839600-71847000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:71839600-71847000	Weak transcription	HSMMtube	muscle
16	chr14:71839800-71843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:71839800-71845000	Weak transcription	NHLF	lung
18	chr14:71840000-71845000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:71840200-71843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:71840600-71843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71840600-71845600	Weak transcription	Stomach Mucosa	stomach
22	chr14:71840800-71844200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:71840800-71844800	Weak transcription	NHEK	skin
24	chr14:71840800-71847000	Weak transcription	HSMM	muscle
25	chr14:71841000-71845200	Weak transcription	Fetal Heart	heart
26	chr14:71841600-71845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:71841600-71845000	Weak transcription	Osteobl	bone
28	chr14:71841800-71844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71842000-71845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:71842000-71845200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:71842200-71843000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:71842400-71843600	Weak transcription	H1 Cell Line	embryonic stem cell

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