Variant report

Variant	rs2548226
Chromosome Location	chr5:96275186-96275187
allele	C/T
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	chr5:96275046-96275271	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96273987..96276644-chr5:96284766..96287407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	TF binding region
ENSG00000227836	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10038651	0.81[EUR][1000 genomes]
rs10044354	0.81[EUR][1000 genomes]
rs10051637	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10058476	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10077945	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1046395	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046396	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10476696	0.81[EUR][1000 genomes]
rs1216566	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216567	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216571	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13170029	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13358339	0.81[EUR][1000 genomes]
rs1363907	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1363908	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1363974	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1363976	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1423357	0.81[EUR][1000 genomes]
rs1423566	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1477364	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1544777	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1820148	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2161548	0.81[EUR][1000 genomes]
rs2351010	0.82[EUR][1000 genomes]
rs2351011	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432141	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2432142	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs251339	0.89[ASN][1000 genomes]
rs251340	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs251341	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs251343	0.85[ASN][1000 genomes]
rs2548224	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2548516	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2548530	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2548532	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549783	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2549794	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617435	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2617439	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2617447	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27306	0.84[EUR][1000 genomes]
rs27307	0.84[EUR][1000 genomes]
rs2762	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs27660	0.84[EUR][1000 genomes]
rs27711	0.84[EUR][1000 genomes]
rs27712	0.82[EUR][1000 genomes]
rs27993	0.84[EUR][1000 genomes]
rs2859491	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2910686	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2910687	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910788	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2910789	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2910793	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927608	0.84[AMR][1000 genomes]
rs2927609	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs38029	0.84[EUR][1000 genomes]
rs38031	0.84[EUR][1000 genomes]
rs38032	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38033	0.82[EUR][1000 genomes]
rs38034	0.82[EUR][1000 genomes]
rs38039	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3849749	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909451	0.81[EUR][1000 genomes]
rs4360063	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6859168	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6871162	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6887500	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs716848	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7703341	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7716222	0.81[EUR][1000 genomes]
rs7719705	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7726445	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7731592	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7733312	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314181	0.81[EUR][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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs2548226	ERAP2	cis	Adipose Subcutaneous	GTEx
rs2548226	ERAP2	cis	Nerve Tibial	GTEx
rs2548226	LNPEP	cis	Esophagus Muscularis	GTEx
rs2548226	ERAP2	cis	Artery Aorta	GTEx
rs2548226	ERAP2	cis	Muscle Skeletal	GTEx
rs2548226	ERAP2	cis	Esophagus Muscularis	GTEx
rs2548226	ERAP2	cis	Thyroid	GTEx
rs2548226	ERAP2	cis	Whole Blood	GTEx
rs2548226	ERAP2	cis	Heart Left Ventricle	GTEx
rs2548226	ERAP2	cis	Esophagus Mucosa	GTEx
rs2548226	ERAP2	cis	lung	GTEx
rs2548226	AC008865.1	cis	Artery Tibial	GTEx
rs2548226	ERAP2	cis	Artery Tibial	GTEx
rs2548226	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs2548226	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs2548226	ERAP2	cis	Stomach	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
2	chr5:96272800-96276400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:96272800-96279000	Weak transcription	Esophagus	oesophagus
4	chr5:96273000-96275800	Weak transcription	Right Ventricle	heart
5	chr5:96273000-96276400	Weak transcription	Gastric	stomach
6	chr5:96273000-96276400	Weak transcription	Left Ventricle	heart
7	chr5:96273000-96276400	Weak transcription	Pancreas	Pancrea
8	chr5:96273000-96278000	Weak transcription	Lung	lung
9	chr5:96273000-96279000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
12	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
13	chr5:96273200-96275200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:96273200-96275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:96273200-96275800	Weak transcription	NH-A	brain
16	chr5:96273200-96276600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:96273200-96276800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:96273200-96279600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:96273400-96277400	Weak transcription	Fetal Thymus	thymus
20	chr5:96273400-96278000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:96273400-96278400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:96273400-96281000	Weak transcription	Fetal Lung	lung
23	chr5:96273400-96292800	Weak transcription	K562	blood
24	chr5:96273600-96276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:96273600-96276600	Enhancers	NHDF-Ad	bronchial
26	chr5:96273600-96277800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:96273600-96280200	Weak transcription	HUVEC	blood vessel
28	chr5:96273800-96275200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:96273800-96275600	Enhancers	HMEC	breast
30	chr5:96273800-96275800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:96273800-96276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:96273800-96277000	Weak transcription	Placenta	Placenta
33	chr5:96273800-96277800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:96273800-96278200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:96273800-96278800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:96273800-96283000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:96273800-96285000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
40	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:96274200-96275200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:96274200-96275600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:96274200-96275800	Enhancers	Primary B cells from cord blood	blood
44	chr5:96274200-96280000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:96274400-96275200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:96274400-96275200	Weak transcription	Osteobl	bone
47	chr5:96274400-96277400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:96274400-96277400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:96274400-96279000	Weak transcription	NHLF	lung
50	chr5:96274400-96279800	Weak transcription	Hela-S3	cervix

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