Variant report

Variant	rs12590689
Chromosome Location	chr14:67585315-67585316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
2	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
3	chr14:67584395..67586994-chr14:67589283..67591290,2	K562	blood:
4	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10131984	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10132088	0.85[ASN][1000 genomes]
rs10132565	0.80[EUR][1000 genomes]
rs10133107	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10134592	0.83[ASN][1000 genomes]
rs10136026	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10136043	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10136344	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10136622	0.91[AMR][1000 genomes]
rs10138850	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138865	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138952	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10139792	0.81[ASN][1000 genomes]
rs10141815	0.84[ASN][1000 genomes]
rs10141947	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10141952	0.86[ASN][1000 genomes]
rs10142059	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10144371	0.92[ASN][1000 genomes]
rs10145508	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10145511	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148117	0.80[EUR][1000 genomes]
rs10149600	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150082	0.81[EUR][1000 genomes]
rs10150145	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10151107	0.81[AMR][1000 genomes]
rs1044745	0.92[EUR][1000 genomes]
rs10483793	0.90[ASN][1000 genomes]
rs1073605	0.84[AMR][1000 genomes]
rs11158652	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11158653	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1138802	0.82[EUR][1000 genomes]
rs12588821	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13379476	0.80[EUR][1000 genomes]
rs1473732	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1546940	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17104114	0.81[EUR][1000 genomes]
rs17104202	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17248252	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17248357	0.83[ASN][1000 genomes]
rs17248421	0.80[ASN][1000 genomes]
rs1918483	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1950281	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1950282	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1955604	0.80[EUR][1000 genomes]
rs1955606	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2039055	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064489	0.86[AMR][1000 genomes]
rs2281676	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2295903	0.80[ASN][1000 genomes]
rs2319777	0.92[EUR][1000 genomes]
rs28368552	0.82[ASN][1000 genomes]
rs28521373	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28539317	0.80[EUR][1000 genomes]
rs28662990	0.92[ASN][1000 genomes]
rs28718312	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28817965	0.81[AMR][1000 genomes]
rs3752993	0.80[ASN][1000 genomes]
rs3784078	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3844530	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3866760	0.86[ASN][1000 genomes]
rs4636843	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58221168	0.85[ASN][1000 genomes]
rs59774616	0.84[ASN][1000 genomes]
rs60505324	0.84[EUR][1000 genomes]
rs61612119	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573734	0.80[EUR][1000 genomes]
rs6573736	0.80[EUR][1000 genomes]
rs6573742	0.80[ASN][1000 genomes]
rs6573747	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573748	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573749	0.80[ASN][1000 genomes]
rs6573750	0.81[ASN][1000 genomes]
rs6573752	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573754	0.81[ASN][1000 genomes]
rs6573755	0.80[ASN][1000 genomes]
rs6573758	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573760	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573765	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68178754	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7141519	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7145005	0.81[ASN][1000 genomes]
rs7145295	0.89[AMR][1000 genomes]
rs7145917	0.80[AMR][1000 genomes]
rs7146638	0.90[ASN][1000 genomes]
rs7147207	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147534	0.89[ASN][1000 genomes]
rs7147570	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7148044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7148425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149905	0.89[AMR][1000 genomes]
rs7150089	0.83[ASN][1000 genomes]
rs7150739	0.83[ASN][1000 genomes]
rs7151898	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152001	0.80[ASN][1000 genomes]
rs7152217	0.80[ASN][1000 genomes]
rs7152231	0.90[ASN][1000 genomes]
rs7152422	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7154905	0.86[ASN][1000 genomes]
rs7156119	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7156655	0.80[EUR][1000 genomes]
rs7157126	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7157394	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7157418	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7158228	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161664	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs723432	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs728647	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73279056	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73280987	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7493580	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs768770	0.92[ASN][1000 genomes]
rs8003929	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8004148	0.81[EUR][1000 genomes]
rs8004488	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8004798	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8005981	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8006281	0.83[ASN][1000 genomes]
rs8009087	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010261	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012063	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8013724	0.92[ASN][1000 genomes]
rs8013943	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8015819	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8018750	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8019510	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8021098	0.91[AMR][1000 genomes]
rs8022657	0.80[EUR][1000 genomes]
rs9323488	0.80[EUR][1000 genomes]
rs9323490	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323491	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323492	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323493	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9323494	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12590689	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
2	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:67554600-67604200	Weak transcription	HMEC	breast
4	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
7	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:67563600-67589600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:67567000-67593200	Weak transcription	Lung	lung
10	chr14:67568000-67618400	Weak transcription	Gastric	stomach
11	chr14:67569400-67590000	Weak transcription	Fetal Stomach	stomach
12	chr14:67569800-67589400	Weak transcription	Fetal Kidney	kidney
13	chr14:67570000-67588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:67570000-67589000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:67570000-67589800	Weak transcription	Aorta	Aorta
16	chr14:67571000-67589600	Weak transcription	Ovary	ovary
17	chr14:67571000-67589600	Weak transcription	Psoas Muscle	Psoas
18	chr14:67571600-67589400	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:67573000-67588400	Weak transcription	Brain Substantia Nigra	brain
20	chr14:67573000-67588800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:67573200-67588800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:67573200-67589600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:67573200-67619800	Weak transcription	HepG2	liver
25	chr14:67573400-67591000	Weak transcription	Spleen	Spleen
26	chr14:67573400-67615000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:67573600-67589600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:67573800-67589600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:67574000-67589600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:67574000-67589800	Weak transcription	Dnd41	blood
31	chr14:67574200-67588800	Weak transcription	Brain Anterior Caudate	brain
32	chr14:67574200-67589400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:67574200-67589800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:67574200-67591800	Weak transcription	Fetal Lung	lung
35	chr14:67574400-67589600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:67574600-67600600	Weak transcription	GM12878-XiMat	blood
37	chr14:67575800-67593000	Weak transcription	Primary T cells from cord blood	blood
38	chr14:67577200-67588800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:67577800-67589800	Weak transcription	Fetal Intestine Large	intestine
40	chr14:67577800-67591800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:67578800-67588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:67579800-67591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:67580000-67589600	Weak transcription	Left Ventricle	heart
44	chr14:67580000-67591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:67580000-67622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:67581600-67587600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:67582000-67587600	Weak transcription	Liver	Liver
48	chr14:67583000-67591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:67583400-67589000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea

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