Variant report

Variant	rs152280
Chromosome Location	chr5:96161942-96161943
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96154679..96157683-chr5:96161689..96165620,3	K562	blood:
2	chr5:96142084..96145593-chr5:96159793..96165077,4	K562	blood:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs149189	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs149431	0.88[ASN][1000 genomes]
rs149544	0.88[ASN][1000 genomes]
rs151908	0.87[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.88[ASN][1000 genomes]
rs151909	0.88[ASN][1000 genomes]
rs151910	0.88[ASN][1000 genomes]
rs151911	0.89[CHB][hapmap];0.90[YRI][hapmap];0.88[ASN][1000 genomes]
rs151940	0.88[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs151953	0.87[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs151954	0.88[ASN][1000 genomes]
rs151964	0.84[ASN][1000 genomes]
rs152466	0.97[ASN][1000 genomes]
rs152468	0.81[CHD][hapmap]
rs187387	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs190298	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs193482	0.88[ASN][1000 genomes]
rs246453	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs246454	0.82[ASN][1000 genomes]
rs246455	0.82[ASN][1000 genomes]
rs26489	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26490	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs26491	0.87[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26493	0.81[CHD][hapmap]
rs26495	0.88[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26496	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26497	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26498	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26500	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26510	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs26512	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27045	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27434	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27527	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27529	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs27640	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27645	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs27710	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs28119	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28129	0.87[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.81[LWK][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs28333	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28337	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30186	0.87[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30187	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs30378	0.86[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs30379	0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs30380	0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs34737	0.97[ASN][1000 genomes]
rs34753	0.87[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs34755	0.83[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs34756	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs34757	0.88[ASN][1000 genomes]
rs34759	0.88[ASN][1000 genomes]
rs34760	0.88[ASN][1000 genomes]
rs34761	0.86[YRI][hapmap]
rs34762	0.88[ASN][1000 genomes]
rs34764	0.87[ASN][1000 genomes]
rs35134	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs40090	0.84[ASN][1000 genomes]
rs40091	0.88[ASN][1000 genomes]
rs40604	0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap]
rs42443	0.88[ASN][1000 genomes]
rs467735	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs468130	0.87[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.88[ASN][1000 genomes]
rs469674	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469758	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs469783	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs845028	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs152280	ERAP1	cis	Whole Blood	GTEx
rs152280	FAM174A	cis	cerebellum	SCAN
rs152280	LNPEP	cis	parietal	SCAN
rs152280	CAST	cis	cerebellum	SCAN
rs152280	CAST	cis	parietal	SCAN
rs152280	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs152280	ERAP2	cis	lymphoblastoid	seeQTL
rs152280	ERAP1	cis	lung	GTEx
rs152280	ERAP2	cis	cerebellum	SCAN
rs152280	ERAP1	cis	Esophagus Mucosa	GTEx
rs152280	ERAP2	cis	parietal	SCAN
rs152280	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs152280	CTD-2260A17.1	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96158600-96166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:96159000-96162200	Weak transcription	Fetal Thymus	thymus
3	chr5:96160400-96164800	Weak transcription	HUVEC	blood vessel
4	chr5:96160800-96162200	Enhancers	Dnd41	blood
5	chr5:96161800-96162400	Enhancers	Thymus	Thymus
6	chr5:96161800-96162600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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