Variant report

Variant	rs59472119
Chromosome Location	chr14:67705668-67705669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67687798..67690741-chr14:67704286..67706160,2	K562	blood:
2	chr14:67665237..67668000-chr14:67705488..67708368,2	MCF-7	breast:
3	chr14:67697366..67699727-chr14:67704401..67707161,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258988	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs1006595	0.80[ASN][1000 genomes]
rs10129779	0.82[ASN][1000 genomes]
rs10130796	0.84[ASN][1000 genomes]
rs10135883	0.87[ASN][1000 genomes]
rs10135903	0.80[ASN][1000 genomes]
rs10138319	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140817	0.83[ASN][1000 genomes]
rs10141692	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10141879	0.92[ASN][1000 genomes]
rs10143916	0.82[ASN][1000 genomes]
rs10144090	0.89[ASN][1000 genomes]
rs10144218	0.89[ASN][1000 genomes]
rs10144401	0.80[ASN][1000 genomes]
rs10145586	0.90[ASN][1000 genomes]
rs10145744	0.91[ASN][1000 genomes]
rs10146663	0.80[ASN][1000 genomes]
rs10147852	0.91[ASN][1000 genomes]
rs10150082	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10150902	0.80[ASN][1000 genomes]
rs10151464	0.83[ASN][1000 genomes]
rs10152002	0.91[ASN][1000 genomes]
rs1044750	0.80[ASN][1000 genomes]
rs10459453	0.90[ASN][1000 genomes]
rs10459529	0.90[ASN][1000 genomes]
rs10459530	0.89[ASN][1000 genomes]
rs10459531	0.90[ASN][1000 genomes]
rs1073604	0.91[ASN][1000 genomes]
rs1073605	0.94[ASN][1000 genomes]
rs1073606	0.90[ASN][1000 genomes]
rs1073607	0.90[ASN][1000 genomes]
rs1078194	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873200	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1113973	0.89[ASN][1000 genomes]
rs11158655	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11158656	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158658	0.88[ASN][1000 genomes]
rs12323494	0.89[ASN][1000 genomes]
rs12323793	0.84[ASN][1000 genomes]
rs12323911	0.89[ASN][1000 genomes]
rs12586402	0.84[ASN][1000 genomes]
rs12586552	0.80[ASN][1000 genomes]
rs12589218	0.89[ASN][1000 genomes]
rs12589325	0.87[ASN][1000 genomes]
rs12590956	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1318914	0.88[ASN][1000 genomes]
rs1473733	0.80[ASN][1000 genomes]
rs1475127	0.91[ASN][1000 genomes]
rs1535489	0.82[ASN][1000 genomes]
rs1535490	0.82[ASN][1000 genomes]
rs1535491	0.82[ASN][1000 genomes]
rs17093616	0.80[ASN][1000 genomes]
rs17104103	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17104106	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17104109	0.84[ASN][1000 genomes]
rs17104114	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17104188	0.89[ASN][1000 genomes]
rs17104223	0.80[ASN][1000 genomes]
rs17104224	0.80[ASN][1000 genomes]
rs17248456	0.94[ASN][1000 genomes]
rs17248526	0.89[ASN][1000 genomes]
rs17248567	0.82[ASN][1000 genomes]
rs17836683	0.88[ASN][1000 genomes]
rs1881035	0.90[ASN][1000 genomes]
rs1918484	0.84[ASN][1000 genomes]
rs2025208	0.89[ASN][1000 genomes]
rs2025209	0.87[ASN][1000 genomes]
rs2146229	0.82[ASN][1000 genomes]
rs2146230	0.89[ASN][1000 genomes]
rs28370351	0.91[ASN][1000 genomes]
rs28401319	0.89[ASN][1000 genomes]
rs28411190	0.91[ASN][1000 genomes]
rs28424592	0.89[ASN][1000 genomes]
rs28472807	0.80[ASN][1000 genomes]
rs28521373	0.81[ASN][1000 genomes]
rs28522593	0.91[ASN][1000 genomes]
rs28522922	0.87[ASN][1000 genomes]
rs28562402	0.91[ASN][1000 genomes]
rs28584286	0.80[ASN][1000 genomes]
rs28607485	0.82[ASN][1000 genomes]
rs28617290	0.81[ASN][1000 genomes]
rs28696352	0.88[ASN][1000 genomes]
rs3784081	0.82[ASN][1000 genomes]
rs3844530	0.81[ASN][1000 genomes]
rs4058254	0.81[ASN][1000 genomes]
rs45612334	0.91[ASN][1000 genomes]
rs4636843	0.81[ASN][1000 genomes]
rs57025434	0.82[ASN][1000 genomes]
rs57266997	0.89[ASN][1000 genomes]
rs57782535	0.89[ASN][1000 genomes]
rs58809332	0.89[ASN][1000 genomes]
rs58954149	0.89[ASN][1000 genomes]
rs59861720	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60953279	0.89[ASN][1000 genomes]
rs61024303	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61281789	0.88[ASN][1000 genomes]
rs61510566	0.90[ASN][1000 genomes]
rs61612119	0.86[ASN][1000 genomes]
rs61749574	0.88[ASN][1000 genomes]
rs6573758	0.88[ASN][1000 genomes]
rs6573760	0.87[ASN][1000 genomes]
rs6573763	0.91[ASN][1000 genomes]
rs6573764	0.89[ASN][1000 genomes]
rs67470433	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140287	0.89[ASN][1000 genomes]
rs7144928	0.80[ASN][1000 genomes]
rs7149535	0.89[ASN][1000 genomes]
rs7151684	0.88[ASN][1000 genomes]
rs7152903	0.90[ASN][1000 genomes]
rs7158743	0.80[ASN][1000 genomes]
rs73276994	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73279028	0.91[ASN][1000 genomes]
rs73279056	0.95[ASN][1000 genomes]
rs73280932	0.91[ASN][1000 genomes]
rs73280967	0.89[ASN][1000 genomes]
rs73282706	0.81[ASN][1000 genomes]
rs73282711	0.83[ASN][1000 genomes]
rs73282717	0.80[ASN][1000 genomes]
rs73282746	0.80[ASN][1000 genomes]
rs8003669	0.93[ASN][1000 genomes]
rs8004148	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8004488	0.88[ASN][1000 genomes]
rs8008155	0.89[ASN][1000 genomes]
rs8008236	0.89[ASN][1000 genomes]
rs8008443	0.83[ASN][1000 genomes]
rs8009318	0.91[ASN][1000 genomes]
rs8014104	0.82[ASN][1000 genomes]
rs8014259	0.82[ASN][1000 genomes]
rs8016037	0.89[ASN][1000 genomes]
rs8017301	0.89[ASN][1000 genomes]
rs8018738	0.91[ASN][1000 genomes]
rs8021896	0.82[ASN][1000 genomes]
rs8021992	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9323496	0.91[ASN][1000 genomes]
rs9743911	0.89[ASN][1000 genomes]
rs9743912	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59472119	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs59472119	ATP6V1D	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67695600-67706800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:67699200-67706600	Weak transcription	HSMM	muscle
3	chr14:67699200-67706600	Weak transcription	NHEK	skin
4	chr14:67699400-67706800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:67700400-67707000	Weak transcription	Fetal Stomach	stomach
6	chr14:67704800-67706600	Weak transcription	Hela-S3	cervix
7	chr14:67705000-67706800	Weak transcription	A549	lung
8	chr14:67705000-67707000	Enhancers	Placenta	Placenta

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