Variant report

Variant	rs12151222
Chromosome Location	chr19:21619038-21619039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21614539..21617498-chr19:21618431..21621735,3	K562	blood:
2	chr19:21617556..21619117-chr19:21620797..21622887,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1012040	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs1021722	0.86[ASN][1000 genomes]
rs10404462	0.86[ASN][1000 genomes]
rs10406824	1.00[JPT][hapmap]
rs10411757	0.82[ASN][1000 genomes]
rs10412656	0.88[ASN][1000 genomes]
rs10414373	0.86[ASN][1000 genomes]
rs10420166	0.86[ASN][1000 genomes]
rs10423403	0.86[ASN][1000 genomes]
rs11085455	0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs12150996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151067	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151068	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12971724	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975330	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12975981	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12976011	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12981869	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12984238	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1500400	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1500401	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1520071	0.86[ASN][1000 genomes]
rs1520072	0.86[ASN][1000 genomes]
rs1520073	1.00[JPT][hapmap]
rs1533675	0.86[GIH][hapmap];1.00[JPT][hapmap]
rs1566474	0.94[ASN][1000 genomes]
rs1566476	0.94[ASN][1000 genomes]
rs1566477	0.94[ASN][1000 genomes]
rs1607664	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs1678822	1.00[JPT][hapmap]
rs16997924	0.94[ASN][1000 genomes]
rs17618715	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17618778	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17680671	0.82[CHB][hapmap]
rs1879235	0.81[ASN][1000 genomes]
rs1963056	0.86[ASN][1000 genomes]
rs1984771	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2056319	0.86[ASN][1000 genomes]
rs2062564	0.86[ASN][1000 genomes]
rs2090707	0.83[ASN][1000 genomes]
rs2133816	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2133820	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs2133821	0.86[ASN][1000 genomes]
rs2173723	0.86[ASN][1000 genomes]
rs2173724	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2246914	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs2262897	0.94[ASN][1000 genomes]
rs2359162	0.86[ASN][1000 genomes]
rs2454919	0.88[ASN][1000 genomes]
rs2562399	1.00[JPT][hapmap]
rs2562419	0.86[ASN][1000 genomes]
rs2562441	0.86[ASN][1000 genomes]
rs2562448	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2562451	0.82[ASN][1000 genomes]
rs2562452	0.82[ASN][1000 genomes]
rs2562453	0.88[ASN][1000 genomes]
rs2562454	0.88[ASN][1000 genomes]
rs2562455	0.88[ASN][1000 genomes]
rs2562457	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2562458	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2562459	0.94[ASN][1000 genomes]
rs2562472	0.86[ASN][1000 genomes]
rs2650757	0.83[ASN][1000 genomes]
rs2650759	0.86[ASN][1000 genomes]
rs2650760	0.86[ASN][1000 genomes]
rs2650774	0.82[AFR][1000 genomes]
rs2650778	0.94[ASN][1000 genomes]
rs2650779	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2650780	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2650781	0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs2650782	0.94[ASN][1000 genomes]
rs2650783	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2650785	0.94[ASN][1000 genomes]
rs2650786	0.94[ASN][1000 genomes]
rs2650787	0.88[ASN][1000 genomes]
rs2650788	0.82[ASN][1000 genomes]
rs2650791	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2650794	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2650799	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2650806	0.86[ASN][1000 genomes]
rs2650807	0.86[ASN][1000 genomes]
rs2650808	0.94[ASN][1000 genomes]
rs2650827	0.86[ASN][1000 genomes]
rs2650829	0.86[ASN][1000 genomes]
rs2650830	0.83[ASN][1000 genomes]
rs2650834	0.86[ASN][1000 genomes]
rs2650835	0.86[ASN][1000 genomes]
rs2650845	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs2681366	0.86[ASN][1000 genomes]
rs2681368	0.86[ASN][1000 genomes]
rs2681371	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2681372	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2681375	0.86[ASN][1000 genomes]
rs2681390	0.86[ASN][1000 genomes]
rs28839521	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914636	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2914647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2914648	0.84[AFR][1000 genomes]
rs2914649	0.82[AFR][1000 genomes]
rs2937158	0.84[AFR][1000 genomes]
rs2937159	0.84[AFR][1000 genomes]
rs2937161	0.80[EUR][1000 genomes]
rs2968081	0.94[ASN][1000 genomes]
rs2968084	0.84[AFR][1000 genomes]
rs34006898	0.86[ASN][1000 genomes]
rs34560125	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34875588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34978316	0.81[ASN][1000 genomes]
rs35088652	0.86[ASN][1000 genomes]
rs35148123	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35245030	0.94[ASN][1000 genomes]
rs35366148	0.81[ASN][1000 genomes]
rs35578515	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35860067	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4332859	0.94[ASN][1000 genomes]
rs4341872	0.90[CEU][hapmap]
rs501647	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs509540	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs56152627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566230	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs57841525	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58818104	0.88[ASN][1000 genomes]
rs59654184	0.86[ASN][1000 genomes]
rs62108277	0.88[ASN][1000 genomes]
rs62108331	0.86[ASN][1000 genomes]
rs62108332	0.86[ASN][1000 genomes]
rs62110379	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62111469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111472	0.94[ASN][1000 genomes]
rs62111476	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111480	0.88[ASN][1000 genomes]
rs6511247	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511261	0.86[ASN][1000 genomes]
rs669046	1.00[JPT][hapmap]
rs67723811	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs685844	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7246684	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7254436	0.82[CHB][hapmap]
rs7254762	0.82[CHB][hapmap]
rs7254872	0.86[ASN][1000 genomes]
rs7257584	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7258211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258523	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7259178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8100193	0.86[ASN][1000 genomes]
rs8100318	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8101077	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101442	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8102252	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs8102655	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102699	0.86[ASN][1000 genomes]
rs8102854	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8103151	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8105629	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8106433	0.86[ASN][1000 genomes]
rs8107042	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8107940	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107999	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs8111189	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8111788	0.86[ASN][1000 genomes]
rs8112359	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8113259	0.86[ASN][1000 genomes]
rs8113558	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs880896	0.86[GIH][hapmap]
rs939301	0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12151222	ZNF493	cis	cerebellum	SCAN
rs12151222	ZNF738	cis	parietal	SCAN
rs12151222	ZNF429	cis	cerebellum	SCAN
rs12151222	ZNF100	cis	cerebellum	SCAN
rs12151222	ZNF429	cis	parietal	SCAN
rs12151222	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs12151222	ZNF738	cis	cerebellum	SCAN
rs12151222	ZNF738	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21607600-21630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21617400-21619200	Enhancers	Stomach Mucosa	stomach
3	chr19:21617400-21619600	Enhancers	Pancreas	Pancrea
4	chr19:21617600-21622400	Weak transcription	Fetal Kidney	kidney
5	chr19:21618200-21626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:21618600-21619600	ZNF genes & repeats	Ovary	ovary
7	chr19:21618600-21621200	Weak transcription	Placenta	Placenta
8	chr19:21619000-21621800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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