Variant report

Variant	rs11158653
Chromosome Location	chr14:67658895-67658896
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	POLR2A	chr14:67658886-67659035	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr14:67658377-67658964	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FAM71D	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10131212	0.82[CHD][hapmap]
rs10131984	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10132093	0.84[EUR][1000 genomes]
rs10138755	0.80[JPT][hapmap]
rs10138824	0.82[CHD][hapmap]
rs10138850	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10138865	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10141879	0.81[CHD][hapmap]
rs10141947	0.82[AMR][1000 genomes]
rs10144090	0.82[CHD][hapmap]
rs10144122	0.84[EUR][1000 genomes]
rs10144417	0.84[CHD][hapmap]
rs10145508	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10145511	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10147362	0.86[EUR][1000 genomes]
rs10147852	0.82[CHD][hapmap]
rs10149600	0.83[AMR][1000 genomes]
rs10149615	0.86[EUR][1000 genomes]
rs10431718	0.82[CHD][hapmap]
rs1044745	0.87[EUR][1000 genomes]
rs1045060	0.84[CHD][hapmap]
rs1073605	0.82[AMR][1000 genomes]
rs11158655	0.82[CHD][hapmap]
rs12588458	0.81[GIH][hapmap];0.87[MEX][hapmap]
rs12590689	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1473732	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1535491	0.82[CHD][hapmap]
rs17104103	0.84[CHD][hapmap];0.82[GIH][hapmap]
rs17104114	0.91[CEU][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap]
rs17104202	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17248252	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17248526	0.82[CHD][hapmap]
rs1918483	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2031563	0.84[CHD][hapmap]
rs2031564	1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap]
rs2039055	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2146229	0.82[CHD][hapmap]
rs2146230	0.82[CHD][hapmap]
rs2281676	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2296560	0.82[CHD][hapmap]
rs2296561	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2319777	1.00[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs28521373	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3759755	0.84[CHD][hapmap]
rs3784078	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3818467	0.84[CHD][hapmap]
rs3844530	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636843	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61612119	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573747	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573752	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573758	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573760	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573763	0.84[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[EUR][1000 genomes]
rs6573768	0.86[EUR][1000 genomes]
rs7141519	1.00[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs7147207	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7148044	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7148425	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7151898	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7152903	0.82[CHD][hapmap]
rs7156119	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7156441	0.84[CHD][hapmap]
rs7157394	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7157418	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7158228	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7161664	1.00[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs73279056	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73280987	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73284892	0.86[EUR][1000 genomes]
rs7493580	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap]
rs8004488	1.00[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8005981	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8006519	0.81[CHD][hapmap]
rs8007033	0.82[CHD][hapmap]
rs8007696	0.86[EUR][1000 genomes]
rs8008619	0.84[CHD][hapmap]
rs8008724	0.84[CHD][hapmap]
rs8009087	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8010261	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8015819	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8016037	0.82[CHD][hapmap]
rs8019510	1.00[CEU][hapmap]
rs8021896	0.82[CHD][hapmap]
rs9323492	0.81[AMR][1000 genomes]
rs9323493	0.82[AMR][1000 genomes]

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	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
8	nsv983938	chr14:67656148-67670777	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3340569	chr14:67658624-67661572	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
10	esv3402715	chr14:67658699-67661472	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11158653	ZFYVE26	cis	cerebellum	SCAN
rs11158653	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs11158653	EIF2S1	cis	multi-tissue	Pritchard
rs11158653	FAM71D	cis	cerebellum	SCAN
rs11158653	EIF2S1	cis	brain	seeQTL
rs11158653	EIF2S1	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67648200-67660400	Weak transcription	Ovary	ovary
2	chr14:67655000-67661800	Weak transcription	A549	lung
3	chr14:67658200-67659000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:67658200-67659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:67658200-67659000	Enhancers	HSMMtube	muscle
6	chr14:67658200-67659000	Enhancers	NH-A	brain
7	chr14:67658200-67659400	Enhancers	HSMM	muscle
8	chr14:67658400-67659000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:67658400-67659000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:67658400-67659000	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr14:67658400-67659400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:67658400-67659400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:67658600-67659000	Active TSS	Brain Anterior Caudate	brain
14	chr14:67658600-67659400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:67658800-67659000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:67658800-67659000	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr14:67658800-67659000	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr14:67658800-67659000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:67658800-67659000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:67658800-67659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:67658800-67659200	Enhancers	Osteobl	bone

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