Variant report

Variant	rs17248357
Chromosome Location	chr14:67617954-67617955
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66831468..66833127-chr14:67617476..67620347,2	MCF-7	breast:

Extended variants
information (count: 153 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10129779	0.91[JPT][hapmap]
rs10131212	0.91[JPT][hapmap]
rs10131242	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10131984	0.90[ASN][1000 genomes]
rs10132088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10134592	0.95[ASN][1000 genomes]
rs10135100	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10135903	0.91[JPT][hapmap]
rs10136073	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10137618	0.82[AMR][1000 genomes]
rs10138631	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10138755	0.90[JPT][hapmap]
rs10138824	0.91[JPT][hapmap]
rs10138850	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10138865	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10139792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140817	0.91[JPT][hapmap]
rs10141815	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10141879	0.81[JPT][hapmap]
rs10141952	0.86[ASN][1000 genomes]
rs10144090	0.90[JPT][hapmap]
rs10144371	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144401	0.91[JPT][hapmap]
rs10145508	0.89[ASN][1000 genomes]
rs10145511	0.87[ASN][1000 genomes]
rs10145586	0.91[JPT][hapmap]
rs10146304	0.85[AMR][1000 genomes]
rs10146663	0.91[JPT][hapmap]
rs10146722	0.90[JPT][hapmap]
rs10147852	0.91[JPT][hapmap]
rs10150098	0.88[EUR][1000 genomes]
rs10150902	0.91[JPT][hapmap]
rs10151464	0.91[JPT][hapmap]
rs10220477	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10431718	0.91[JPT][hapmap]
rs1045060	0.90[JPT][hapmap]
rs10459453	0.91[JPT][hapmap]
rs10483793	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1073607	0.91[JPT][hapmap]
rs10873200	0.91[JPT][hapmap]
rs11158655	0.91[JPT][hapmap]
rs11158658	0.87[JPT][hapmap]
rs12323494	0.91[JPT][hapmap]
rs12323911	0.91[JPT][hapmap]
rs12586552	0.90[JPT][hapmap]
rs12589091	0.90[JPT][hapmap]
rs12589218	0.91[JPT][hapmap]
rs12590689	0.83[ASN][1000 genomes]
rs1318914	0.91[JPT][hapmap]
rs13379478	0.88[EUR][1000 genomes]
rs1535491	0.91[JPT][hapmap]
rs17104103	0.91[JPT][hapmap]
rs17104106	0.91[JPT][hapmap]
rs17104109	0.91[JPT][hapmap]
rs17104114	0.82[JPT][hapmap]
rs17248252	0.88[ASN][1000 genomes]
rs17248421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17248526	0.91[JPT][hapmap]
rs17248616	0.90[JPT][hapmap]
rs1885589	0.91[JPT][hapmap]
rs1918483	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1950284	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1952337	0.83[CHB][hapmap]
rs2031563	0.86[JPT][hapmap]
rs2038398	0.88[EUR][1000 genomes]
rs2039055	0.85[ASN][1000 genomes]
rs2057396	0.91[JPT][hapmap]
rs2146229	0.91[JPT][hapmap]
rs2146230	0.91[JPT][hapmap]
rs2236333	0.91[JPT][hapmap]
rs2274335	0.91[JPT][hapmap]
rs2274338	0.91[JPT][hapmap]
rs2281676	0.87[ASN][1000 genomes]
rs2295903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28368552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28662990	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28678515	0.88[AMR][1000 genomes]
rs28685619	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3752993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3818467	0.91[JPT][hapmap]
rs3866760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4058254	0.86[JPT][hapmap]
rs58221168	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59774616	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573744	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6573745	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573746	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573749	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573750	0.92[AMR][1000 genomes]
rs6573751	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573752	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6573753	0.82[AMR][1000 genomes]
rs6573754	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6573755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573760	0.82[JPT][hapmap]
rs7141519	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7144434	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7144580	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7145005	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7146638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7147207	0.91[ASN][1000 genomes]
rs7147534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148044	0.96[ASN][1000 genomes]
rs7148425	0.96[ASN][1000 genomes]
rs7149535	0.91[JPT][hapmap]
rs7150089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150739	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7150934	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151086	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7151898	0.89[ASN][1000 genomes]
rs7152217	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7152231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7152903	0.91[JPT][hapmap]
rs7154905	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7155042	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7156081	0.88[EUR][1000 genomes]
rs7156119	0.94[ASN][1000 genomes]
rs7157394	0.88[ASN][1000 genomes]
rs7157418	0.87[ASN][1000 genomes]
rs7158228	0.88[ASN][1000 genomes]
rs7161664	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7161698	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7493580	0.85[ASN][1000 genomes]
rs768770	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8004148	0.81[JPT][hapmap]
rs8004488	0.82[JPT][hapmap]
rs8005981	0.88[ASN][1000 genomes]
rs8006281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008236	0.91[JPT][hapmap]
rs8008739	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8009087	0.81[ASN][1000 genomes]
rs8009318	0.91[JPT][hapmap]
rs8010261	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs8012944	0.88[EUR][1000 genomes]
rs8013724	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8014966	0.91[JPT][hapmap]
rs8015862	0.91[JPT][hapmap]
rs8016037	0.91[JPT][hapmap]
rs8019510	0.96[CHB][hapmap];0.87[JPT][hapmap]
rs8021896	0.91[JPT][hapmap]
rs9323494	0.90[ASN][1000 genomes]
rs9743842	1.00[CEU][hapmap]
rs9743911	0.91[JPT][hapmap]

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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	esv1838445	chr14:67600169-67634318	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17248357	EIF2S1	cis	multi-tissue	Pritchard
rs17248357	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67568000-67618400	Weak transcription	Gastric	stomach
2	chr14:67573200-67619800	Weak transcription	HepG2	liver
3	chr14:67580000-67622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea
5	chr14:67588000-67639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:67588400-67639200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:67588600-67638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:67590200-67618000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:67590200-67637400	Weak transcription	Aorta	Aorta
10	chr14:67590200-67638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:67590400-67618000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:67590800-67621400	Weak transcription	Right Ventricle	heart
13	chr14:67590800-67637600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:67591200-67618400	Weak transcription	Fetal Stomach	stomach
15	chr14:67591400-67640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:67592200-67618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:67598200-67620000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67599800-67618000	Weak transcription	HSMM	muscle
19	chr14:67600800-67647400	Weak transcription	Fetal Kidney	kidney
20	chr14:67607400-67621600	Weak transcription	Colonic Mucosa	Colon
21	chr14:67610400-67634200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:67610600-67619600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:67610600-67634600	Weak transcription	Ovary	ovary
24	chr14:67610800-67638400	Weak transcription	Left Ventricle	heart
25	chr14:67613000-67618400	Weak transcription	Liver	Liver
26	chr14:67613000-67640200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:67613200-67637400	Weak transcription	Adipose Nuclei	Adipose
28	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:67615000-67634600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:67617400-67618000	Enhancers	Brain Hippocampus Middle	brain
31	chr14:67617400-67618600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:67617800-67618200	Active TSS	Brain Angular Gyrus	brain
33	chr14:67617800-67618200	Active TSS	Brain Anterior Caudate	brain

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