Variant report

Variant	rs1881035
Chromosome Location	chr14:67692698-67692699
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	chr14:67692344..67694125-chr14:67702855..67704369,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10130796	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10135883	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10138319	0.82[ASN][1000 genomes]
rs10138392	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10141692	0.91[ASN][1000 genomes]
rs10141879	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10144090	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10144218	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10145586	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10145744	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10147852	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10150082	0.84[ASN][1000 genomes]
rs10152002	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10459453	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10459529	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10459530	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10459531	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1073604	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1073605	0.85[ASN][1000 genomes]
rs1073606	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1073607	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1078194	0.88[ASN][1000 genomes]
rs10873200	0.80[ASN][1000 genomes]
rs1113973	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11158655	0.80[ASN][1000 genomes]
rs11158656	0.89[ASN][1000 genomes]
rs11158658	0.85[ASN][1000 genomes]
rs12323494	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12323793	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12323911	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12586402	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12589218	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12589325	0.84[ASN][1000 genomes]
rs12590956	0.90[ASN][1000 genomes]
rs1318914	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1475127	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17104103	0.85[ASN][1000 genomes]
rs17104106	0.80[ASN][1000 genomes]
rs17104109	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17104114	0.84[ASN][1000 genomes]
rs17104188	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17248456	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17248526	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17836683	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1918484	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2025208	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2025209	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2146230	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28370351	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28401319	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28411190	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28424592	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28522593	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28522922	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28562402	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28617290	0.80[ASN][1000 genomes]
rs28696352	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs45612334	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57266997	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57782535	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58809332	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58954149	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59472119	0.90[ASN][1000 genomes]
rs59861720	0.89[ASN][1000 genomes]
rs60953279	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61024303	0.80[ASN][1000 genomes]
rs61281789	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61510566	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61749574	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6573763	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6573764	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67470433	0.88[ASN][1000 genomes]
rs7140287	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7149535	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7151684	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7152903	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73276994	0.81[ASN][1000 genomes]
rs73279028	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73279056	0.85[ASN][1000 genomes]
rs73280932	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73280967	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8003669	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8004148	0.88[ASN][1000 genomes]
rs8008155	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8008236	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8008443	0.83[AMR][1000 genomes]
rs8009318	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8016037	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8017301	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8018738	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9323496	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9743911	0.83[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1881035	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67687000-67697000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:67689400-67695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:67689400-67695200	Weak transcription	NH-A	brain
4	chr14:67689400-67695400	Weak transcription	HSMM	muscle
5	chr14:67689600-67695000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:67691200-67692800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:67692400-67692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:67692600-67692800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:67692600-67692800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:67692600-67693000	Enhancers	Placenta	Placenta

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