Variant report

Variant	rs2351012
Chromosome Location	chr5:96191747-96191748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96142198..96144111-chr5:96191264..96193895,2	MCF-7	breast:
2	chr5:96185451..96187318-chr5:96190686..96192448,2	K562	blood:
3	chr5:96189537..96191977-chr5:96384132..96387078,2	K562	blood:
4	chr5:96187112..96188825-chr5:96189187..96193185,3	MCF-7	breast:
5	chr5:96184835..96188350-chr5:96188739..96192448,3	K562	blood:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1230366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519842	1.00[ASN][1000 genomes]
rs12659038	0.84[ASN][1000 genomes]
rs12659825	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151823	0.96[ASN][1000 genomes]
rs152468	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184971	0.98[ASN][1000 genomes]
rs2042381	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2351013	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs245472	0.98[ASN][1000 genomes]
rs249960	0.97[ASN][1000 genomes]
rs2545629	0.98[ASN][1000 genomes]
rs2549804	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2549805	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs26493	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs27043	0.84[ASN][1000 genomes]
rs27044	0.84[ASN][1000 genomes]
rs27432	0.83[ASN][1000 genomes]
rs27694	0.98[ASN][1000 genomes]
rs2911138	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2911139	0.97[ASN][1000 genomes]
rs2927619	1.00[ASN][1000 genomes]
rs2927620	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30376	0.84[ASN][1000 genomes]
rs34735	0.98[ASN][1000 genomes]
rs39840	0.84[ASN][1000 genomes]
rs39841	0.84[ASN][1000 genomes]
rs3985002	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42398	0.84[ASN][1000 genomes]
rs61112531	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709668	0.99[ASN][1000 genomes]
rs845028	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
rs2351012	ERAP1	cis	lung	GTEx
rs2351012	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs2351012	CTD-2260A17.3	cis	Whole Blood	GTEx
rs2351012	ERAP1	cis	Whole Blood	GTEx
rs2351012	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs2351012	CTD-2260A17.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2351012	LRAP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96188800-96193000	Enhancers	Fetal Intestine Small	intestine
2	chr5:96188800-96194400	Enhancers	Adipose Nuclei	Adipose
3	chr5:96189800-96196400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:96190000-96191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:96190600-96191800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:96190600-96192400	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:96190800-96191800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:96190800-96191800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:96190800-96191800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:96190800-96191800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:96190800-96192000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:96191000-96191800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:96191000-96191800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:96191000-96191800	Flanking Active TSS	Osteobl	bone
15	chr5:96191200-96191800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:96191200-96191800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:96191200-96191800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:96191200-96191800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:96191200-96191800	Enhancers	Ovary	ovary
20	chr5:96191200-96191800	Enhancers	K562	blood
21	chr5:96191200-96192400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:96191200-96192600	Enhancers	Fetal Lung	lung
23	chr5:96191200-96192600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:96191400-96192400	Enhancers	Fetal Brain Male	brain
25	chr5:96191400-96192800	Enhancers	Fetal Stomach	stomach
26	chr5:96191600-96191800	Enhancers	Liver	Liver
27	chr5:96191600-96191800	Enhancers	HSMM	muscle
28	chr5:96191600-96191800	Flanking Active TSS	HSMMtube	muscle
29	chr5:96191600-96192400	Enhancers	Colonic Mucosa	Colon
30	chr5:96191600-96192600	Enhancers	Small Intestine	intestine
31	chr5:96191600-96192800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:96191600-96193000	Enhancers	Fetal Intestine Large	intestine
33	chr5:96191600-96193000	Enhancers	Skeletal Muscle Female	skeletal muscle

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