Variant report

Variant	rs17248252
Chromosome Location	chr14:67562929-67562930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66916774..66918358-chr14:67561566..67563280,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10047902	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10131984	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10132088	0.89[ASN][1000 genomes]
rs10132565	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133107	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10134592	0.87[ASN][1000 genomes]
rs10136026	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136043	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136344	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10136622	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10138850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10138865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10138952	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10139792	0.86[ASN][1000 genomes]
rs10140817	0.82[JPT][hapmap]
rs10141815	0.82[ASN][1000 genomes]
rs10141879	0.90[JPT][hapmap]
rs10141947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142059	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10144090	0.86[JPT][hapmap]
rs10144371	0.82[ASN][1000 genomes]
rs10144401	0.82[JPT][hapmap]
rs10144915	0.86[EUR][1000 genomes]
rs10145508	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10145511	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145586	0.82[JPT][hapmap]
rs10147852	0.82[JPT][hapmap]
rs10148117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10149600	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150145	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10151107	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10151464	0.82[JPT][hapmap]
rs10431718	0.82[JPT][hapmap]
rs10459453	0.82[JPT][hapmap]
rs10483793	0.88[ASN][1000 genomes]
rs1073607	0.82[JPT][hapmap]
rs1078194	0.87[JPT][hapmap]
rs10873200	0.82[JPT][hapmap]
rs11158652	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11158653	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11158655	0.82[JPT][hapmap]
rs1138802	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12323494	0.82[JPT][hapmap]
rs12323911	0.82[JPT][hapmap]
rs12588821	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12589218	0.83[JPT][hapmap]
rs12590689	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12590956	0.87[JPT][hapmap]
rs1318914	0.82[JPT][hapmap]
rs13379476	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1473732	0.89[EUR][1000 genomes]
rs1535491	0.82[JPT][hapmap]
rs1546940	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104103	0.82[JPT][hapmap]
rs17104106	0.83[JPT][hapmap]
rs17104109	0.83[JPT][hapmap]
rs17104114	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs17104202	0.91[EUR][1000 genomes]
rs17248357	0.88[ASN][1000 genomes]
rs17248421	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17248526	0.82[JPT][hapmap]
rs1918483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1950281	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1950282	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1950689	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1952337	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1955604	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1955606	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2039055	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2064489	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2146230	0.82[JPT][hapmap]
rs2281676	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2295903	0.84[ASN][1000 genomes]
rs28368552	0.86[ASN][1000 genomes]
rs28444104	0.85[EUR][1000 genomes]
rs28521373	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28539317	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28662990	0.90[ASN][1000 genomes]
rs28718312	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28817965	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3752993	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3784078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844530	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3866760	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4636843	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58221168	0.98[ASN][1000 genomes]
rs59774616	0.82[ASN][1000 genomes]
rs61612119	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6573728	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573734	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573736	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573747	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573748	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573754	0.85[ASN][1000 genomes]
rs6573755	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6573758	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6573760	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6573763	0.90[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs68178754	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7141519	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7145295	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7145917	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7146638	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7147207	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147570	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7148044	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148425	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7149535	0.83[JPT][hapmap]
rs7149905	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7150089	0.88[ASN][1000 genomes]
rs7150739	0.81[ASN][1000 genomes]
rs7150934	0.81[ASN][1000 genomes]
rs7151898	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152217	0.84[ASN][1000 genomes]
rs7152231	0.81[ASN][1000 genomes]
rs7152422	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7152903	0.81[JPT][hapmap]
rs7156119	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156655	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7157126	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7157394	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs723432	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs728647	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73274960	0.80[AMR][1000 genomes]
rs73279056	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73280987	0.94[EUR][1000 genomes]
rs7493580	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs768770	0.90[ASN][1000 genomes]
rs8003929	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs8004488	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8004798	0.85[EUR][1000 genomes]
rs8005981	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006281	0.88[ASN][1000 genomes]
rs8008236	0.82[JPT][hapmap]
rs8009087	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009318	0.82[JPT][hapmap]
rs8010261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012063	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8013724	0.90[ASN][1000 genomes]
rs8013943	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8015819	0.91[EUR][1000 genomes]
rs8015862	0.83[JPT][hapmap]
rs8016037	0.82[JPT][hapmap]
rs8018750	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8019510	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8021098	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8021896	0.82[JPT][hapmap]
rs8022657	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323488	0.86[EUR][1000 genomes]
rs9323490	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323491	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9323492	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323493	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9323494	0.82[ASN][1000 genomes]
rs9743911	0.83[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17248252	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs17248252	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
2	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
7	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
8	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
9	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
12	chr14:67550200-67571200	Weak transcription	Dnd41	blood
13	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:67551200-67568800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:67553600-67569400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:67553800-67569400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:67554400-67569400	Weak transcription	Fetal Brain Female	brain
18	chr14:67554600-67604200	Weak transcription	HMEC	breast
19	chr14:67554800-67567400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:67555000-67571000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:67557600-67568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
25	chr14:67559000-67570800	Weak transcription	Brain Angular Gyrus	brain
26	chr14:67559200-67567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:67559800-67567200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:67560600-67567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67561400-67569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:67561800-67567200	Weak transcription	Liver	Liver
31	chr14:67561800-67570400	Weak transcription	Adipose Nuclei	Adipose
32	chr14:67562000-67568800	Weak transcription	Fetal Intestine Small	intestine
33	chr14:67562200-67578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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