Variant report

Variant	rs190298
Chromosome Location	chr5:96166230-96166231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96162807..96165386-chr5:96165966..96168695,2	K562	blood:
2	chr5:96142166..96144479-chr5:96163702..96167274,4	MCF-7	breast:
3	chr5:96162807..96165795-chr5:96165966..96170084,3	K562	blood:
4	chr5:96142853..96144823-chr5:96166082..96168547,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs149189	0.82[ASN][1000 genomes]
rs149431	0.85[ASN][1000 genomes]
rs149544	0.85[ASN][1000 genomes]
rs151908	0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs151909	0.85[ASN][1000 genomes]
rs151910	0.85[ASN][1000 genomes]
rs151911	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs151940	0.84[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs151953	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs151954	0.85[ASN][1000 genomes]
rs151964	0.81[ASN][1000 genomes]
rs152280	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs152466	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193482	0.85[ASN][1000 genomes]
rs245471	0.93[EUR][1000 genomes]
rs245472	0.80[AFR][1000 genomes]
rs246453	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs2549805	0.90[YRI][hapmap]
rs26489	0.81[ASN][1000 genomes]
rs26491	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs26495	0.84[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs26496	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs26497	0.82[ASN][1000 genomes]
rs26498	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs26500	0.81[ASN][1000 genomes]
rs26510	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs27045	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs27434	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs27527	0.96[ASN][1000 genomes]
rs27529	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs27640	0.81[ASN][1000 genomes]
rs27645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27710	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs28119	0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs28129	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs28333	0.81[ASN][1000 genomes]
rs28337	0.81[ASN][1000 genomes]
rs30185	0.81[ASN][1000 genomes]
rs30186	0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs30187	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs30378	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs30379	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs30380	0.83[CHB][hapmap]
rs34737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34753	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs34755	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34756	0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs34757	0.85[ASN][1000 genomes]
rs34759	0.85[ASN][1000 genomes]
rs34760	0.85[ASN][1000 genomes]
rs34762	0.85[ASN][1000 genomes]
rs34764	0.83[ASN][1000 genomes]
rs35134	0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs40090	0.80[ASN][1000 genomes]
rs40091	0.84[ASN][1000 genomes]
rs40604	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs41135	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs42443	0.85[ASN][1000 genomes]
rs468130	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs469758	0.83[JPT][hapmap]
rs469783	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs709669	0.89[EUR][1000 genomes]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs190298	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs190298	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs190298	ERAP1	cis	Whole Blood	GTEx
rs190298	ERAP1	cis	multi-tissue	Pritchard
rs190298	LRAP	cis	normal skin	skin_eQTL

Chromatin state (count:5 , 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	chr5:96164000-96170400	Weak transcription	Dnd41	blood
3	chr5:96164800-96166600	Enhancers	HUVEC	blood vessel
4	chr5:96166000-96167400	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:96166200-96166800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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