Variant report

Variant	rs151823
Chromosome Location	chr5:96159992-96159993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96158505..96161239-chr5:96162094..96164343,2	MCF-7	breast:
2	chr5:96159522..96160358-chr7:106182565..106183090,2	MCF-7	breast:
3	chr5:96142084..96145593-chr5:96159793..96165077,4	K562	blood:
4	chr5:96141844..96146815-chr5:96155332..96160391,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10434710	0.84[AMR][1000 genomes]
rs12054720	0.81[JPT][hapmap];0.87[MEX][hapmap]
rs1230366	0.96[ASN][1000 genomes]
rs12519842	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659038	0.82[ASN][1000 genomes]
rs12659825	0.96[ASN][1000 genomes]
rs149189	0.82[ASN][1000 genomes]
rs151940	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs151964	0.81[ASN][1000 genomes]
rs152468	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.98[ASN][1000 genomes]
rs184971	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2042381	0.97[ASN][1000 genomes]
rs2303138	0.81[JPT][hapmap];0.88[MEX][hapmap]
rs2351012	0.96[ASN][1000 genomes]
rs2351013	0.96[ASN][1000 genomes]
rs245472	0.98[ASN][1000 genomes]
rs246453	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs249960	0.97[ASN][1000 genomes]
rs2545629	0.98[ASN][1000 genomes]
rs2549804	0.96[ASN][1000 genomes]
rs2549805	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs26489	0.81[ASN][1000 genomes]
rs26491	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs26493	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs26495	0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs26496	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs26497	0.82[ASN][1000 genomes]
rs26498	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs26499	0.80[JPT][hapmap]
rs26500	0.81[ASN][1000 genomes]
rs26510	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs26654	0.82[CHB][hapmap]
rs27043	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs27044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs27045	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs27432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs27434	0.86[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs27529	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs27619	0.83[JPT][hapmap]
rs27640	0.81[ASN][1000 genomes]
rs27694	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs27710	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs28119	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs28333	0.81[ASN][1000 genomes]
rs28337	0.81[ASN][1000 genomes]
rs2911138	0.93[ASN][1000 genomes]
rs2911139	0.97[ASN][1000 genomes]
rs2927619	0.96[ASN][1000 genomes]
rs2927620	0.96[ASN][1000 genomes]
rs30185	0.81[ASN][1000 genomes]
rs30186	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs30187	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs30376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs30378	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs30379	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs30380	0.87[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs34735	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs39840	0.88[ASN][1000 genomes]
rs39841	0.88[ASN][1000 genomes]
rs3985002	0.96[ASN][1000 genomes]
rs42398	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs469758	0.91[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs469783	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs61112531	0.96[ASN][1000 genomes]
rs709668	0.97[ASN][1000 genomes]
rs845028	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs151823	ERAP2	cis	lymphoblastoid	seeQTL
rs151823	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs151823	ERAP1	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96154400-96160400	Enhancers	Dnd41	blood
2	chr5:96156200-96160400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:96156600-96160800	Enhancers	HMEC	breast
4	chr5:96156800-96160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:96157000-96160200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:96157400-96160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:96158400-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:96158600-96160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:96158600-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:96158600-96160600	Enhancers	Hela-S3	cervix
11	chr5:96158600-96166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:96158800-96160200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:96158800-96160400	Enhancers	NHLF	lung
14	chr5:96159000-96160200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:96159000-96160200	Enhancers	HSMM	muscle
16	chr5:96159000-96162200	Weak transcription	Fetal Thymus	thymus
17	chr5:96159200-96160200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:96159200-96160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:96159200-96160400	Enhancers	HUVEC	blood vessel
20	chr5:96159200-96160400	Enhancers	NH-A	brain
21	chr5:96159200-96160400	Enhancers	Osteobl	bone
22	chr5:96159200-96160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:96159200-96161800	Weak transcription	Thymus	Thymus
24	chr5:96159400-96160000	Enhancers	HepG2	liver
25	chr5:96159400-96160000	Enhancers	NHDF-Ad	bronchial
26	chr5:96159400-96160200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:96159400-96160200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:96159400-96160200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:96159600-96160200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:96159600-96160200	Enhancers	Stomach Mucosa	stomach
31	chr5:96159800-96160200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:96159800-96160200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:96159800-96160200	Enhancers	Fetal Intestine Small	intestine
34	chr5:96159800-96160200	Flanking Active TSS	NHEK	skin

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