Variant report

Variant	rs72476727
Chromosome Location	chr14:67866230-67866231
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	POU2F2	chr14:67865903-67866546	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:67865796-67866532	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67858454..67860962-chr14:67864794..67867141,2	MCF-7	breast:

Variant related genes	Relation type
PLEK2	TF binding region
ENSG00000100558	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10129779	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10131175	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10131212	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10135163	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10135498	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10135727	0.82[AMR][1000 genomes]
rs10135903	0.82[AMR][1000 genomes]
rs10136710	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10137026	0.82[AMR][1000 genomes]
rs10137557	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10138755	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10138824	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10138932	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10139015	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139585	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139684	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139953	0.83[AMR][1000 genomes]
rs10140817	0.82[AMR][1000 genomes]
rs10143251	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10143916	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10144401	0.82[AMR][1000 genomes]
rs10144417	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10146663	0.82[AMR][1000 genomes]
rs10146722	0.82[AMR][1000 genomes]
rs10147640	0.84[ASN][1000 genomes]
rs10150902	0.82[AMR][1000 genomes]
rs10151464	0.82[AMR][1000 genomes]
rs1044750	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1045060	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12586552	0.82[AMR][1000 genomes]
rs12586609	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12587679	0.85[AMR][1000 genomes]
rs12588355	0.84[ASN][1000 genomes]
rs12588388	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12588478	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12589091	0.82[AMR][1000 genomes]
rs12589606	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12589671	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12589983	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12590952	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13379142	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13379368	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1473733	0.82[AMR][1000 genomes]
rs1475128	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1475129	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1535489	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1535490	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1535491	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1536271	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1536272	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1536273	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1555853	0.86[ASN][1000 genomes]
rs17093616	0.82[AMR][1000 genomes]
rs17104223	0.82[AMR][1000 genomes]
rs17104224	0.82[AMR][1000 genomes]
rs17248567	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17248616	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17248714	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17564263	0.82[AMR][1000 genomes]
rs17836702	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1885589	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1980817	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2031563	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2057396	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2146229	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2236333	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2274335	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2274336	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2274338	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2296560	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2296562	0.80[AMR][1000 genomes]
rs2296563	0.81[AMR][1000 genomes]
rs28405138	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28422832	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28441403	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28456209	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28458235	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28524846	0.82[AMR][1000 genomes]
rs28558916	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28607485	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28617290	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28668536	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28706091	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28866617	0.83[AMR][1000 genomes]
rs3759755	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3784081	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3809387	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3818467	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3818468	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825722	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4058254	0.82[AMR][1000 genomes]
rs4058266	0.80[AMR][1000 genomes]
rs57025434	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57234033	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144928	0.82[AMR][1000 genomes]
rs7153350	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153725	0.86[AMR][1000 genomes]
rs7153965	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7156441	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7157211	0.84[EUR][1000 genomes]
rs7157704	0.82[AMR][1000 genomes]
rs7158743	0.82[AMR][1000 genomes]
rs7158751	0.82[AMR][1000 genomes]
rs7160238	0.82[AMR][1000 genomes]
rs73282706	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73282711	0.82[AMR][1000 genomes]
rs73282717	0.82[AMR][1000 genomes]
rs73282734	0.82[AMR][1000 genomes]
rs73282746	0.82[AMR][1000 genomes]
rs73282766	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73282772	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73282775	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73282776	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73282798	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73284805	0.82[AMR][1000 genomes]
rs73284810	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73284812	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8004332	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8004864	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005756	0.86[AMR][1000 genomes]
rs8005876	0.86[AMR][1000 genomes]
rs8005900	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006391	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8006519	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8007033	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007618	0.86[ASN][1000 genomes]
rs8008619	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8008724	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8014104	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8014259	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8014871	0.80[ASN][1000 genomes]
rs8014966	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8015302	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8016623	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8018623	0.82[AMR][1000 genomes]
rs8019398	0.82[AMR][1000 genomes]
rs8020720	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8021227	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8021621	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021896	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv1815452	chr14:67862371-67866671	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1822467	chr14:67862371-67866671	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1843609	chr14:67862371-67866671	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
12	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72476727	ATP6V1D	cis	Thyroid	GTEx
rs72476727	EIF2S1	cis	Artery Aorta	GTEx
rs72476727	ATP6V1D	cis	Esophagus Mucosa	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
2	chr14:67850200-67878400	Weak transcription	Lung	lung
3	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
4	chr14:67855200-67867400	Strong transcription	NHEK	skin
5	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:67858600-67867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
8	chr14:67859800-67866600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:67862400-67867000	Weak transcription	Colonic Mucosa	Colon
13	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:67863600-67867600	Weak transcription	HSMMtube	muscle
16	chr14:67863600-67868200	Weak transcription	Fetal Intestine Large	intestine
17	chr14:67864200-67866600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:67864400-67870200	Weak transcription	Fetal Stomach	stomach
19	chr14:67864600-67866600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:67864600-67866800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67864600-67872200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:67864800-67866400	Weak transcription	Fetal Heart	heart
23	chr14:67864800-67876200	Weak transcription	Hela-S3	cervix
24	chr14:67865200-67875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:67865800-67870800	Weak transcription	HMEC	breast

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