Variant report

Variant	rs1230366
Chromosome Location	chr5:96195280-96195281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96188005..96191369-chr5:96193266..96198174,6	K562	blood:
2	chr5:96145939..96148077-chr5:96193066..96195482,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12519842	1.00[ASN][1000 genomes]
rs12659038	0.84[ASN][1000 genomes]
rs12659825	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151823	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs151940	0.87[CHB][hapmap]
rs152468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184971	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2042381	0.97[ASN][1000 genomes]
rs2351012	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351013	1.00[ASN][1000 genomes]
rs245472	0.98[ASN][1000 genomes]
rs246453	0.87[CHB][hapmap]
rs249960	0.97[ASN][1000 genomes]
rs2545629	0.98[ASN][1000 genomes]
rs2549804	1.00[ASN][1000 genomes]
rs2549805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs26491	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs26493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26495	0.87[CHB][hapmap]
rs26496	0.87[CHB][hapmap]
rs26498	0.87[CHB][hapmap]
rs26510	0.87[CHB][hapmap]
rs26654	0.82[CHB][hapmap]
rs27043	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs27044	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs27045	0.87[CHB][hapmap]
rs27432	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs27434	0.86[CHB][hapmap]
rs27529	0.87[CHB][hapmap]
rs27694	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs27710	0.87[CHB][hapmap]
rs28119	0.87[CHB][hapmap]
rs2911138	0.97[ASN][1000 genomes]
rs2911139	0.97[ASN][1000 genomes]
rs2927619	1.00[ASN][1000 genomes]
rs2927620	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30186	0.87[CHB][hapmap]
rs30187	0.87[CHB][hapmap]
rs30376	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs30378	0.91[CHB][hapmap]
rs30379	0.87[CHB][hapmap]
rs30380	0.87[CHB][hapmap]
rs34735	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs39840	0.84[ASN][1000 genomes]
rs39841	0.84[ASN][1000 genomes]
rs3985002	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42398	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs469758	0.91[CHB][hapmap]
rs469783	0.83[CHB][hapmap]
rs4869315	0.86[JPT][hapmap]
rs61112531	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709668	0.99[ASN][1000 genomes]
rs845028	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1230366	ERAP1	cis	lung	GTEx
rs1230366	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1230366	ERAP1	cis	Whole Blood	GTEx
rs1230366	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs1230366	CTD-2260A17.3	cis	Whole Blood	GTEx
rs1230366	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1230366	ERAP1	cis	Nerve Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96189800-96196400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:96192600-96198400	Weak transcription	Thymus	Thymus
3	chr5:96193000-96196800	Weak transcription	Fetal Thymus	thymus
4	chr5:96193000-96197800	Weak transcription	Fetal Intestine Large	intestine
5	chr5:96193000-96198200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:96195000-96195800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:96195200-96201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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