Variant report

Variant	rs8012761
Chromosome Location	chr14:66714587-66714588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10129881	0.86[ASN][1000 genomes]
rs10129887	0.86[ASN][1000 genomes]
rs10131110	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10132014	0.86[ASN][1000 genomes]
rs10134278	0.91[JPT][hapmap]
rs10134793	0.92[ASN][1000 genomes]
rs10136750	0.81[ASN][1000 genomes]
rs10138025	0.92[ASN][1000 genomes]
rs10143013	0.84[ASN][1000 genomes]
rs10146368	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151227	0.91[ASN][1000 genomes]
rs10151298	0.91[ASN][1000 genomes]
rs10152091	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10431711	0.86[ASN][1000 genomes]
rs10483786	0.89[ASN][1000 genomes]
rs10498524	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1124037	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12586868	0.82[JPT][hapmap]
rs12588449	0.80[AMR][1000 genomes]
rs1369218	0.87[ASN][1000 genomes]
rs1434901	0.91[ASN][1000 genomes]
rs1434902	0.81[ASN][1000 genomes]
rs1434903	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1434904	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17103446	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17103486	0.87[ASN][1000 genomes]
rs17103489	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103523	0.87[ASN][1000 genomes]
rs17103525	0.81[AMR][1000 genomes]
rs17246707	0.87[ASN][1000 genomes]
rs1959672	0.80[AMR][1000 genomes]
rs1959673	0.84[ASN][1000 genomes]
rs2000078	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2053149	0.86[ASN][1000 genomes]
rs2117485	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2319012	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28408630	0.81[AMR][1000 genomes]
rs28498220	0.89[ASN][1000 genomes]
rs28521841	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28566016	0.87[ASN][1000 genomes]
rs28582518	0.89[ASN][1000 genomes]
rs28837148	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28895643	0.85[ASN][1000 genomes]
rs4499179	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4595731	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55918163	0.89[ASN][1000 genomes]
rs57051236	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57983041	0.90[ASN][1000 genomes]
rs58385530	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59300735	0.90[ASN][1000 genomes]
rs60467718	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6573654	0.89[ASN][1000 genomes]
rs6573655	0.89[ASN][1000 genomes]
rs6573656	0.89[ASN][1000 genomes]
rs67298130	0.91[ASN][1000 genomes]
rs7141894	0.90[JPT][hapmap]
rs7143596	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145240	0.89[ASN][1000 genomes]
rs7145634	0.89[ASN][1000 genomes]
rs7151102	0.91[JPT][hapmap]
rs7154155	0.89[ASN][1000 genomes]
rs7158295	0.87[ASN][1000 genomes]
rs7160098	0.85[ASN][1000 genomes]
rs7160622	0.87[ASN][1000 genomes]
rs73272035	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7359115	0.80[AMR][1000 genomes]
rs7494083	0.83[ASN][1000 genomes]
rs8003157	0.89[ASN][1000 genomes]
rs8003342	0.89[ASN][1000 genomes]
rs8003474	0.87[ASN][1000 genomes]
rs8006012	0.87[ASN][1000 genomes]
rs8006157	0.87[ASN][1000 genomes]
rs8009043	0.89[ASN][1000 genomes]
rs8013107	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013131	0.88[ASN][1000 genomes]
rs8014473	0.88[ASN][1000 genomes]
rs8014490	0.84[ASN][1000 genomes]
rs8017745	0.89[ASN][1000 genomes]
rs8021972	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022194	0.89[ASN][1000 genomes]
rs8022482	0.89[ASN][1000 genomes]
rs8023042	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892701	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920014	0.89[ASN][1000 genomes]
rs9323472	0.84[ASN][1000 genomes]
rs950197	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9652289	0.87[ASN][1000 genomes]
rs966019	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs992473	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv1052135	chr14:66674584-66843126	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1314	chr14:66679003-66723684	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1036604	chr14:66698351-66829205	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8012761	EIF2S1	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66710000-66714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:66712600-66714800	Weak transcription	Fetal Brain Male	brain
3	chr14:66714000-66714600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:66714200-66715000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:66714200-66715000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:66714400-66714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:66714400-66715000	Enhancers	Fetal Brain Female	brain
8	chr14:66714400-66715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:66714400-66715800	Enhancers	Brain Germinal Matrix	brain
10	chr14:66714400-66716400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:66714400-66716400	Enhancers	Fetal Lung	lung

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