Variant report

Variant	rs1423566
Chromosome Location	chr5:96273767-96273768
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	JUN	chr5:96273030-96273888	K562	blood:	n/a	chr5:96273761-96273773
2	POLR2A	chr5:96273652-96273806	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96272582..96274239-chr5:96286288..96288115,2	K562	blood:
2	chr5:96270050..96274625-chr5:96293478..96297387,4	MCF-7	breast:
3	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:

Variant related genes	Relation type
ENSG00000227836	TF binding region
ENSG00000247121	TF binding region
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10038651	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044354	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10051637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058476	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10061936	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069361	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077945	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046395	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1046396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476696	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1056893	0.83[AFR][1000 genomes]
rs1216565	0.91[AFR][1000 genomes]
rs1216566	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1216567	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1216568	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1216569	0.90[AFR][1000 genomes]
rs1216570	0.89[AFR][1000 genomes]
rs1216571	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13170029	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358339	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363907	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1363908	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1363974	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363975	0.87[AFR][1000 genomes]
rs1363976	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1363977	0.87[AFR][1000 genomes]
rs1423357	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423568	0.81[AFR][1000 genomes]
rs1477364	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544777	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17087165	0.83[AFR][1000 genomes]
rs171647	0.81[AFR][1000 genomes]
rs18059	0.84[ASN][1000 genomes]
rs1820148	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs187265	0.81[AFR][1000 genomes]
rs193994	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113191	0.83[AFR][1000 genomes]
rs2161548	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161658	0.81[AFR][1000 genomes]
rs2255546	0.87[AFR][1000 genomes]
rs2255633	0.87[AFR][1000 genomes]
rs2255634	0.87[AFR][1000 genomes]
rs2255637	0.87[AFR][1000 genomes]
rs2287988	0.81[AFR][1000 genomes]
rs2351010	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351011	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2432141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432142	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251340	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs251341	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2548224	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2548226	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2548516	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548520	0.84[AFR][1000 genomes]
rs2548521	0.83[AFR][1000 genomes]
rs2548523	0.83[AFR][1000 genomes]
rs2548524	0.84[AFR][1000 genomes]
rs2548526	0.81[AFR][1000 genomes]
rs2548528	0.81[AFR][1000 genomes]
rs2548530	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2548532	0.91[EUR][1000 genomes]
rs2548533	0.81[AFR][1000 genomes]
rs2548534	0.81[AFR][1000 genomes]
rs2549783	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2549788	0.81[AFR][1000 genomes]
rs2549789	0.83[AFR][1000 genomes]
rs2549790	0.83[AFR][1000 genomes]
rs2549792	0.83[AFR][1000 genomes]
rs2549794	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2549795	0.83[AFR][1000 genomes]
rs2549797	0.83[AFR][1000 genomes]
rs2549798	0.81[AFR][1000 genomes]
rs2549800	0.87[AFR][1000 genomes]
rs2549801	0.87[AFR][1000 genomes]
rs2617434	0.87[AFR][1000 genomes]
rs2617435	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617439	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2617447	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs27289	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27290	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27293	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27294	0.82[ASN][1000 genomes]
rs27295	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27296	0.83[ASN][1000 genomes]
rs27298	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27299	0.83[ASN][1000 genomes]
rs27300	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27302	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27306	0.86[EUR][1000 genomes]
rs27307	0.86[EUR][1000 genomes]
rs27436	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27613	0.85[ASN][1000 genomes]
rs2762	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27621	0.83[ASN][1000 genomes]
rs27659	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27660	0.85[EUR][1000 genomes]
rs27711	0.85[EUR][1000 genomes]
rs27712	0.83[EUR][1000 genomes]
rs27993	0.85[EUR][1000 genomes]
rs27998	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2859491	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2910686	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2910687	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2910688	0.87[AFR][1000 genomes]
rs2910787	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910788	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910793	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2927608	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2927609	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs31398	0.83[ASN][1000 genomes]
rs33934033	0.83[AFR][1000 genomes]
rs3797796	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38029	0.85[EUR][1000 genomes]
rs38030	0.82[ASN][1000 genomes]
rs38031	0.85[EUR][1000 genomes]
rs38032	0.89[EUR][1000 genomes]
rs38033	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38034	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38038	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38039	0.86[EUR][1000 genomes]
rs38040	0.88[ASN][1000 genomes]
rs38043	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38044	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3849749	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3909451	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39602	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42983	0.81[ASN][1000 genomes]
rs4360063	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859168	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6870825	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871162	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873866	0.81[AMR][1000 genomes]
rs6887500	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716848	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7703341	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705093	0.84[ASN][1000 genomes]
rs7713127	0.82[EUR][1000 genomes]
rs7716222	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719705	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7726445	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731592	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733312	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7736466	0.82[EUR][1000 genomes]
rs9314181	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1423566	ERAP2	cis	Thyroid	GTEx
rs1423566	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs1423566	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1423566	ERAP2	cis	Whole Blood	GTEx
rs1423566	ERAP2	cis	Nerve Tibial	GTEx
rs1423566	ERAP2	cis	lung	GTEx
rs1423566	ERAP2	cis	Esophagus Mucosa	GTEx
rs1423566	ERAP2	cis	Heart Left Ventricle	GTEx
rs1423566	ERAP2	cis	Artery Tibial	GTEx
rs1423566	ERAP2	cis	Stomach	GTEx
rs1423566	ERAP2	cis	Adipose Subcutaneous	GTEx
rs1423566	ERAP2	cis	Esophagus Muscularis	GTEx
rs1423566	ERAP2	cis	Muscle Skeletal	GTEx
rs1423566	AC008865.1	cis	Artery Tibial	GTEx
rs1423566	ERAP2	cis	Artery Aorta	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
2	chr5:96269600-96273800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:96271800-96273800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr5:96272400-96273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:96272400-96273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96272600-96273800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:96272600-96274600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr5:96272600-96274600	Flanking Active TSS	Dnd41	blood
9	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
10	chr5:96272800-96273800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:96272800-96273800	Active TSS	Placenta	Placenta
12	chr5:96272800-96273800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:96272800-96274000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr5:96272800-96276400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:96272800-96279000	Weak transcription	Esophagus	oesophagus
16	chr5:96273000-96273800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:96273000-96273800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:96273000-96274000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:96273000-96274000	Enhancers	HSMM	muscle
20	chr5:96273000-96274200	Weak transcription	Ovary	ovary
21	chr5:96273000-96274400	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:96273000-96274400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:96273000-96274400	Enhancers	Stomach Mucosa	stomach
24	chr5:96273000-96274600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:96273000-96274600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr5:96273000-96274600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr5:96273000-96274600	Enhancers	Liver	Liver
28	chr5:96273000-96274600	Enhancers	Brain Angular Gyrus	brain
29	chr5:96273000-96274600	Enhancers	Small Intestine	intestine
30	chr5:96273000-96274800	Weak transcription	Psoas Muscle	Psoas
31	chr5:96273000-96275800	Weak transcription	Right Ventricle	heart
32	chr5:96273000-96276400	Weak transcription	Gastric	stomach
33	chr5:96273000-96276400	Weak transcription	Left Ventricle	heart
34	chr5:96273000-96276400	Weak transcription	Pancreas	Pancrea
35	chr5:96273000-96278000	Weak transcription	Lung	lung
36	chr5:96273000-96279000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
39	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
40	chr5:96273200-96273800	Enhancers	A549	lung
41	chr5:96273200-96274000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:96273200-96274000	Enhancers	Brain Anterior Caudate	brain
43	chr5:96273200-96274000	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:96273200-96274200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:96273200-96274200	Weak transcription	Fetal Intestine Large	intestine
46	chr5:96273200-96274200	Weak transcription	Right Atrium	heart
47	chr5:96273200-96274400	Enhancers	Hela-S3	cervix
48	chr5:96273200-96274400	Enhancers	NHLF	lung
49	chr5:96273200-96274600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:96273200-96274600	Enhancers	Brain Hippocampus Middle	brain

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