Variant report

Variant	rs2319184
Chromosome Location	chr14:66855987-66855988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:192)

rs_ID	r²[population]
rs1009294	0.84[ASN][1000 genomes]
rs1010965	0.87[ASN][1000 genomes]
rs10129809	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10130193	0.80[ASN][1000 genomes]
rs10130239	0.83[ASN][1000 genomes]
rs10132669	0.83[ASN][1000 genomes]
rs10133676	0.82[ASN][1000 genomes]
rs10133769	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10133818	0.84[ASN][1000 genomes]
rs10134043	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10134064	0.85[ASN][1000 genomes]
rs10134088	0.83[ASN][1000 genomes]
rs10134278	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10134424	0.83[ASN][1000 genomes]
rs10135880	0.84[ASN][1000 genomes]
rs10138005	0.83[ASN][1000 genomes]
rs10138505	0.83[ASN][1000 genomes]
rs10139656	0.83[ASN][1000 genomes]
rs10139723	0.82[ASN][1000 genomes]
rs10141750	0.83[ASN][1000 genomes]
rs10141991	0.83[ASN][1000 genomes]
rs10142124	0.86[ASN][1000 genomes]
rs10142143	0.87[ASN][1000 genomes]
rs10142195	0.87[ASN][1000 genomes]
rs10142375	0.86[ASN][1000 genomes]
rs10142537	0.83[ASN][1000 genomes]
rs10143291	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10144449	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10145751	0.81[ASN][1000 genomes]
rs10146361	0.84[ASN][1000 genomes]
rs10148021	0.84[ASN][1000 genomes]
rs10148290	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10148418	0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs10149072	0.84[ASN][1000 genomes]
rs10149639	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10149642	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10151844	0.86[ASN][1000 genomes]
rs10152053	0.86[ASN][1000 genomes]
rs10220297	0.88[EUR][1000 genomes]
rs10220636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158625	0.83[ASN][1000 genomes]
rs11158638	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12050456	0.96[ASN][1000 genomes]
rs12586868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12587051	0.92[ASN][1000 genomes]
rs12588173	0.86[ASN][1000 genomes]
rs12588449	0.84[ASN][1000 genomes]
rs12588933	0.86[ASN][1000 genomes]
rs12589479	0.86[ASN][1000 genomes]
rs12590545	0.86[ASN][1000 genomes]
rs13353130	0.86[ASN][1000 genomes]
rs13379248	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs1379413	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs1379414	0.87[ASN][1000 genomes]
rs1379415	0.81[ASN][1000 genomes]
rs1379416	0.86[ASN][1000 genomes]
rs1434903	0.81[JPT][hapmap]
rs1434904	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs1457419	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1457420	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1457421	0.80[ASN][1000 genomes]
rs1457422	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1457423	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1457424	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs1457425	0.86[ASN][1000 genomes]
rs1457426	0.86[ASN][1000 genomes]
rs1457427	0.86[ASN][1000 genomes]
rs1457428	0.87[ASN][1000 genomes]
rs1457429	0.84[ASN][1000 genomes]
rs1457430	0.84[ASN][1000 genomes]
rs1457431	0.87[ASN][1000 genomes]
rs1457432	0.86[ASN][1000 genomes]
rs1457433	0.86[ASN][1000 genomes]
rs1457434	0.88[ASN][1000 genomes]
rs1457437	0.86[ASN][1000 genomes]
rs1457439	0.85[ASN][1000 genomes]
rs1598772	0.88[ASN][1000 genomes]
rs17103525	0.81[ASN][1000 genomes]
rs17827222	0.94[ASN][1000 genomes]
rs17827252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17827349	0.86[ASN][1000 genomes]
rs17827523	0.86[ASN][1000 genomes]
rs17827614	0.83[ASN][1000 genomes]
rs17827735	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs17827741	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs17827790	0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs1902644	0.86[ASN][1000 genomes]
rs1959672	0.84[ASN][1000 genomes]
rs1993478	0.84[ASN][1000 genomes]
rs2085482	0.87[ASN][1000 genomes]
rs2297620	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2319185	0.88[ASN][1000 genomes]
rs2319387	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs28379778	0.83[ASN][1000 genomes]
rs28408630	0.84[ASN][1000 genomes]
rs28610294	0.83[ASN][1000 genomes]
rs28616636	0.80[ASN][1000 genomes]
rs28772914	0.86[ASN][1000 genomes]
rs28802324	0.86[ASN][1000 genomes]
rs3737160	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs3737161	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs3742853	0.84[ASN][1000 genomes]
rs3818770	0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4600407	0.84[ASN][1000 genomes]
rs6573666	0.84[ASN][1000 genomes]
rs6573667	0.86[ASN][1000 genomes]
rs6573668	0.84[ASN][1000 genomes]
rs6573669	0.84[ASN][1000 genomes]
rs6573670	0.86[ASN][1000 genomes]
rs6573671	0.86[ASN][1000 genomes]
rs6573673	0.84[ASN][1000 genomes]
rs6573674	0.84[ASN][1000 genomes]
rs6573679	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7140509	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs7141089	0.87[ASN][1000 genomes]
rs7141225	0.85[ASN][1000 genomes]
rs7142097	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7142154	0.83[ASN][1000 genomes]
rs7143629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7143823	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7145556	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7146723	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs7147360	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7149352	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs7149488	0.84[ASN][1000 genomes]
rs7149651	0.86[ASN][1000 genomes]
rs7149668	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs7150098	0.86[ASN][1000 genomes]
rs7150418	0.87[ASN][1000 genomes]
rs7150773	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151102	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7151773	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7154154	0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs7155944	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs7156467	0.83[ASN][1000 genomes]
rs7156737	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs7157043	0.83[ASN][1000 genomes]
rs7157060	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7157879	0.83[ASN][1000 genomes]
rs7158075	0.85[ASN][1000 genomes]
rs7158262	0.86[ASN][1000 genomes]
rs7159194	0.83[ASN][1000 genomes]
rs7159364	0.86[ASN][1000 genomes]
rs7159681	0.86[ASN][1000 genomes]
rs7159750	0.86[ASN][1000 genomes]
rs7159796	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7160107	0.84[ASN][1000 genomes]
rs7160183	0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7160519	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs7160696	0.86[ASN][1000 genomes]
rs716232	0.86[ASN][1000 genomes]
rs716233	0.86[ASN][1000 genomes]
rs716234	0.86[ASN][1000 genomes]
rs73273971	0.84[ASN][1000 genomes]
rs73279761	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73281649	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7359115	0.84[ASN][1000 genomes]
rs735957	0.86[ASN][1000 genomes]
rs8003769	0.81[ASN][1000 genomes]
rs8004227	0.86[ASN][1000 genomes]
rs8004241	0.82[ASN][1000 genomes]
rs8004856	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8005737	0.85[ASN][1000 genomes]
rs8007262	0.87[ASN][1000 genomes]
rs8007305	0.84[ASN][1000 genomes]
rs8009108	0.84[ASN][1000 genomes]
rs8009338	0.85[ASN][1000 genomes]
rs8009415	0.89[ASN][1000 genomes]
rs8011794	0.85[ASN][1000 genomes]
rs8012374	0.85[ASN][1000 genomes]
rs8012649	0.86[ASN][1000 genomes]
rs8013806	0.84[ASN][1000 genomes]
rs8015155	0.86[ASN][1000 genomes]
rs8018685	0.84[ASN][1000 genomes]
rs8019603	0.84[ASN][1000 genomes]
rs8020024	0.86[ASN][1000 genomes]
rs8020115	0.87[ASN][1000 genomes]
rs8020532	0.86[ASN][1000 genomes]
rs8021204	0.84[ASN][1000 genomes]
rs8023247	0.82[ASN][1000 genomes]
rs8181963	0.84[ASN][1000 genomes]
rs8181967	0.84[ASN][1000 genomes]
rs928553	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs9323473	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap]
rs9332388	0.85[ASN][1000 genomes]
rs9630390	0.83[ASN][1000 genomes]
rs9635252	0.86[ASN][1000 genomes]
rs9635253	0.86[ASN][1000 genomes]
rs9652292	0.82[ASN][1000 genomes]
rs9943992	0.82[ASN][1000 genomes]
rs9944069	0.88[EUR][1000 genomes]
rs9944086	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1054056	chr14:66848234-66946135	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2319184	EIF2S1	cis	lymphoblastoid	seeQTL
rs2319184	EIF2S1	cis	multi-tissue	Pritchard
rs2319184	ATP6V1D	cis	lung	GTEx
rs2319184	ATP6V1D	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66850600-66861800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:66855800-66856000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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