Variant report

Variant	rs951162
Chromosome Location	chr19:21621380-21621381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21619589..21622487-chr19:21622888..21624863,2	K562	blood:
2	chr19:21614539..21617498-chr19:21618431..21621735,3	K562	blood:
3	chr19:21617556..21619117-chr19:21620797..21622887,2	MCF-7	breast:

Extended variants
information (count: 143 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10405716	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1055753	0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11085441	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs11085447	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11085450	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1142653	0.83[AMR][1000 genomes]
rs11666680	0.81[ASN][1000 genomes]
rs11667259	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667770	0.84[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11668682	0.86[ASN][1000 genomes]
rs11668691	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11669043	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11669130	0.87[ASN][1000 genomes]
rs11669588	0.81[AMR][1000 genomes]
rs11671265	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461384	0.82[AMR][1000 genomes]
rs12609823	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610154	0.81[ASN][1000 genomes]
rs12972580	0.83[AMR][1000 genomes]
rs12974735	0.81[AMR][1000 genomes]
rs12975081	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs12975464	0.81[AMR][1000 genomes]
rs12978116	0.81[AMR][1000 genomes]
rs12979646	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12980097	0.82[AMR][1000 genomes]
rs12981564	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs12981735	0.84[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes]
rs12981775	0.83[AMR][1000 genomes]
rs12981777	0.81[AMR][1000 genomes]
rs12982162	0.83[AMR][1000 genomes]
rs12982282	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs12983426	0.81[AMR][1000 genomes]
rs12983787	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12984871	0.83[AMR][1000 genomes]
rs1401926	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs17680671	0.88[CEU][hapmap]
rs1781873	0.83[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1813234	0.83[CHB][hapmap]
rs1932088	0.82[AMR][1000 genomes]
rs1963531	0.82[AMR][1000 genomes]
rs1963532	0.81[AMR][1000 genomes]
rs2012013	0.84[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs2012038	0.83[AMR][1000 genomes]
rs2061918	0.83[AMR][1000 genomes]
rs2061919	0.82[AMR][1000 genomes]
rs2086317	0.83[AMR][1000 genomes]
rs2086318	0.83[AMR][1000 genomes]
rs2088762	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs2127404	0.83[AMR][1000 genomes]
rs2127405	0.83[AMR][1000 genomes]
rs2127406	0.83[AMR][1000 genomes]
rs2127407	0.83[AMR][1000 genomes]
rs2127408	0.83[AMR][1000 genomes]
rs2133819	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133822	0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2170024	0.85[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2219840	0.83[AMR][1000 genomes]
rs2358982	0.83[AMR][1000 genomes]
rs2358983	0.83[AMR][1000 genomes]
rs2358984	0.83[CHB][hapmap]
rs2358985	0.83[AMR][1000 genomes]
rs2358986	0.83[AMR][1000 genomes]
rs2358988	0.83[AMR][1000 genomes]
rs2358990	0.83[AMR][1000 genomes]
rs2650774	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2650845	0.83[CHB][hapmap]
rs28498118	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884601	0.83[AMR][1000 genomes]
rs2914638	0.83[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2914648	0.82[EUR][1000 genomes]
rs2914649	0.82[EUR][1000 genomes]
rs2937158	0.81[EUR][1000 genomes]
rs2937159	0.81[EUR][1000 genomes]
rs2968084	0.82[EUR][1000 genomes]
rs34152818	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35773446	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35994743	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3973190	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4306654	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4315457	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs4341872	0.83[CHB][hapmap]
rs4438422	0.83[AMR][1000 genomes]
rs4566304	0.83[AMR][1000 genomes]
rs4621113	0.84[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56346453	0.87[ASN][1000 genomes]
rs6511229	0.83[AMR][1000 genomes]
rs6511231	0.83[AMR][1000 genomes]
rs6511232	0.83[AMR][1000 genomes]
rs6511233	0.81[AMR][1000 genomes]
rs6511237	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6511238	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511239	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511242	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511245	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511246	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7245729	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245920	0.83[AMR][1000 genomes]
rs7246883	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247060	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247411	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7248601	0.83[JPT][hapmap]
rs7248989	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7249412	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7249636	0.83[CHB][hapmap]
rs7251620	0.81[ASN][1000 genomes]
rs7252254	0.94[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7252261	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs7253178	0.82[AMR][1000 genomes]
rs7253249	0.94[CHB][hapmap]
rs7253886	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254059	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7254436	0.84[CEU][hapmap]
rs7254762	0.84[CEU][hapmap]
rs7256361	0.81[AMR][1000 genomes]
rs7257580	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7257857	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7258335	0.83[AMR][1000 genomes]
rs7259311	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260369	0.82[AMR][1000 genomes]
rs7508671	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs8099940	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs8101089	0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs8103325	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs8103459	0.86[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs8103908	0.83[AMR][1000 genomes]
rs8104017	0.83[AMR][1000 genomes]
rs8107999	0.87[CEU][hapmap]
rs8109940	0.94[CHB][hapmap]
rs8110814	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs8110842	0.81[AMR][1000 genomes]
rs8110967	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs8111549	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112059	0.82[AMR][1000 genomes]
rs8112583	0.83[AMR][1000 genomes]
rs924487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973240	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:29)

SNP	Gene	Cis/trans	Tissue	Source
rs951162	RP11-678G14.2	cis	lung	GTEx
rs951162	RP11-678G14.2	cis	Thyroid	GTEx
rs951162	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs951162	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs951162	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs951162	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs951162	RP11-678G14.2	cis	Artery Tibial	GTEx
rs951162	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs951162	RP11-678G14.2	cis	Whole Blood	GTEx
rs951162	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs951162	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs951162	RP11-678G14.2	cis	Nerve Tibial	GTEx
rs951162	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs951162	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs951162	CTD-2561J22.5	cis	lung	GTEx
rs951162	ZNF429	cis	Whole Blood	GTEx
rs951162	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs951162	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs951162	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs951162	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs951162	CTD-2561J22.5	cis	Thyroid	GTEx
rs951162	ZNF493	cis	Heart Left Ventricle	GTEx
rs951162	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs951162	ZNF429	cis	Muscle Skeletal	GTEx
rs951162	RP11-678G14.3	cis	lung	GTEx
rs951162	LOC115648	cis	uninvolved skin	skin_eQTL
rs951162	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs951162	LINC00664	cis	Adipose Subcutaneous	GTEx
rs951162	CTD-2561J22.5	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 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	chr19:21617600-21622400	Weak transcription	Fetal Kidney	kidney
3	chr19:21618200-21626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21619000-21621800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:21619600-21621600	Weak transcription	Pancreas	Pancrea
6	chr19:21621000-21621600	Active TSS	Ovary	ovary
7	chr19:21621000-21621800	Enhancers	Stomach Mucosa	stomach
8	chr19:21621200-21623600	Enhancers	Placenta	Placenta
9	chr19:21621200-21625000	Weak transcription	Dnd41	blood

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