Variant report

Variant	rs17248421
Chromosome Location	chr14:67652922-67652923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:67652671-67654298	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FAM71D	TF binding region

Extended variants
information (count: 167 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10129779	0.90[JPT][hapmap]
rs10130796	0.80[ASN][1000 genomes]
rs10131175	0.91[JPT][hapmap]
rs10131212	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10131242	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10131984	0.89[ASN][1000 genomes]
rs10132088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134592	0.97[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]
rs10137557	0.90[JPT][hapmap]
rs10137618	0.82[AMR][1000 genomes]
rs10138631	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10138755	0.89[JPT][hapmap]
rs10138824	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10138850	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs10138865	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs10139792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140817	0.91[JPT][hapmap]
rs10141815	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10141879	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs10141952	0.83[ASN][1000 genomes]
rs10144090	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs10144371	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10144401	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs10144417	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs10145508	0.86[ASN][1000 genomes]
rs10145511	0.84[ASN][1000 genomes]
rs10145586	0.90[JPT][hapmap]
rs10146304	0.85[AMR][1000 genomes]
rs10146663	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs10146722	0.89[JPT][hapmap]
rs10147852	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10150902	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs10151464	0.91[JPT][hapmap]
rs10220477	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10431718	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1045060	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs10459453	0.91[JPT][hapmap]
rs10483793	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1073607	0.91[JPT][hapmap]
rs1078194	0.82[JPT][hapmap]
rs10873200	0.91[JPT][hapmap]
rs11158655	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs11158658	0.86[JPT][hapmap]
rs12323494	0.90[JPT][hapmap]
rs12323911	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs12586402	0.80[ASN][1000 genomes]
rs12586552	0.89[JPT][hapmap]
rs12588478	0.90[JPT][hapmap]
rs12589091	0.89[JPT][hapmap]
rs12589218	0.91[JPT][hapmap]
rs12589671	0.91[JPT][hapmap]
rs12590689	0.80[ASN][1000 genomes]
rs12590956	0.82[JPT][hapmap]
rs1318914	0.91[JPT][hapmap]
rs13379142	0.90[JPT][hapmap]
rs13379368	0.91[JPT][hapmap]
rs1535491	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1536271	0.91[JPT][hapmap]
rs1536272	0.91[JPT][hapmap]
rs17104103	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs17104106	0.91[JPT][hapmap]
rs17104109	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs17104114	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs17248252	0.84[ASN][1000 genomes]
rs17248357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17248526	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs17248616	0.90[JPT][hapmap]
rs1885589	0.90[JPT][hapmap]
rs1918483	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs1918484	0.80[ASN][1000 genomes]
rs1950284	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1952337	0.83[CHB][hapmap]
rs2031563	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2039055	0.81[ASN][1000 genomes]
rs2057396	0.91[JPT][hapmap]
rs2146229	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs2146230	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs2236333	0.91[JPT][hapmap]
rs2274335	0.91[JPT][hapmap]
rs2274338	0.91[JPT][hapmap]
rs2281676	0.88[ASN][1000 genomes]
rs2295903	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296560	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs28368552	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28662990	0.97[AMR][1000 genomes];0.86[EUR][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];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3759755	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs3818467	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs3866760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4058254	0.86[JPT][hapmap]
rs58221168	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[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];0.95[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6573753	0.82[AMR][1000 genomes]
rs6573754	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6573755	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573760	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7141519	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147207	0.87[ASN][1000 genomes]
rs7147534	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148044	0.96[ASN][1000 genomes]
rs7148425	0.96[ASN][1000 genomes]
rs7149535	0.91[JPT][hapmap]
rs7150089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7150739	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7150934	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7151086	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7151898	0.88[ASN][1000 genomes]
rs7152217	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7152231	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152903	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7154905	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7155042	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7156119	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7156441	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs7157394	0.84[ASN][1000 genomes]
rs7157418	0.84[ASN][1000 genomes]
rs7158228	0.84[ASN][1000 genomes]
rs7161664	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap]
rs7161698	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7493580	0.81[ASN][1000 genomes]
rs768770	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8004148	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs8004488	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs8005981	0.87[ASN][1000 genomes]
rs8006281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006391	0.90[JPT][hapmap]
rs8006519	0.83[CHD][hapmap]
rs8007033	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs8008236	0.91[JPT][hapmap]
rs8008619	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs8008724	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs8008739	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8009318	0.91[JPT][hapmap]
rs8010261	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8012944	0.88[EUR][1000 genomes]
rs8013724	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8014966	0.91[JPT][hapmap]
rs8015862	0.91[JPT][hapmap]
rs8016037	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs8019510	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs8021896	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs9323494	0.92[ASN][1000 genomes]
rs9743842	1.00[CEU][hapmap]
rs9743911	0.91[JPT][hapmap]

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
rs17248421	EIF2S1	cis	lymphoblastoid	seeQTL
rs17248421	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:67618400-67658200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67634600-67653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:67635000-67653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:67639600-67658600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:67645400-67653000	Weak transcription	HSMM	muscle
7	chr14:67645800-67656400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:67645800-67658200	Weak transcription	Brain Anterior Caudate	brain
9	chr14:67646000-67653200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:67646000-67653400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:67646000-67653400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:67646000-67655800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:67646200-67656200	Weak transcription	Psoas Muscle	Psoas
14	chr14:67647400-67653000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:67647600-67653200	Weak transcription	HSMMtube	muscle
16	chr14:67647800-67653200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:67647800-67653600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:67647800-67658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:67648200-67653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:67648200-67653400	Weak transcription	Gastric	stomach
21	chr14:67648200-67653400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:67648200-67653400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:67648200-67653400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:67648200-67654400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:67648200-67656000	Weak transcription	Aorta	Aorta
26	chr14:67648200-67656000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:67648200-67656000	Weak transcription	Spleen	Spleen
28	chr14:67648200-67656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:67648200-67658200	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:67648200-67658200	Weak transcription	Brain Substantia Nigra	brain
31	chr14:67648200-67660400	Weak transcription	Ovary	ovary
32	chr14:67648400-67653200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:67648400-67653200	Weak transcription	Left Ventricle	heart
34	chr14:67648400-67653400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:67648400-67653600	Weak transcription	Esophagus	oesophagus
36	chr14:67648400-67656000	Weak transcription	Fetal Stomach	stomach
37	chr14:67648400-67658000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:67648400-67658000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:67648400-67658400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:67648400-67658800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:67648600-67653400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:67648600-67656000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:67648800-67653400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:67648800-67656000	Weak transcription	Liver	Liver
45	chr14:67650200-67656000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:67651400-67653000	Enhancers	Hela-S3	cervix
47	chr14:67652400-67656200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:67652600-67653000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:67652600-67653400	Enhancers	GM12878-XiMat	blood
50	chr14:67652600-67653400	Enhancers	HepG2	liver

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