Variant report

Variant	rs61112531
Chromosome Location	chr5:96191820-96191821
allele	A/G
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	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519842	1.00[ASN][1000 genomes]
rs12659038	0.84[ASN][1000 genomes]
rs12659825	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151823	0.96[ASN][1000 genomes]
rs152468	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184971	0.98[ASN][1000 genomes]
rs2042381	0.97[ASN][1000 genomes]
rs2351012	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351013	1.00[ASN][1000 genomes]
rs245472	0.98[ASN][1000 genomes]
rs249960	0.97[ASN][1000 genomes]
rs2545629	0.98[ASN][1000 genomes]
rs2549804	1.00[ASN][1000 genomes]
rs2549805	1.00[ASN][1000 genomes]
rs26493	0.93[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	0.97[ASN][1000 genomes]
rs2911139	0.97[ASN][1000 genomes]
rs2927619	1.00[ASN][1000 genomes]
rs2927620	0.93[AMR][1000 genomes];0.93[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	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42398	0.84[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
rs61112531	CTD-2260A17.3	cis	Whole Blood	GTEx
rs61112531	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs61112531	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs61112531	CTD-2260A17.3	cis	Skin Sun Exposed Lower leg	GTEx
rs61112531	ERAP1	cis	lung	GTEx
rs61112531	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs61112531	ERAP1	cis	Whole Blood	GTEx

Chromatin state (count:19 , 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	chr5:96190600-96192400	Enhancers	Duodenum Mucosa	Duodenum
5	chr5:96190800-96192000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:96191200-96192400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:96191200-96192600	Enhancers	Fetal Lung	lung
8	chr5:96191200-96192600	Enhancers	Fetal Muscle Leg	muscle
9	chr5:96191400-96192400	Enhancers	Fetal Brain Male	brain
10	chr5:96191400-96192800	Enhancers	Fetal Stomach	stomach
11	chr5:96191600-96192400	Enhancers	Colonic Mucosa	Colon
12	chr5:96191600-96192600	Enhancers	Small Intestine	intestine
13	chr5:96191600-96192800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:96191600-96193000	Enhancers	Fetal Intestine Large	intestine
15	chr5:96191600-96193000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:96191800-96192400	Enhancers	Osteobl	bone
17	chr5:96191800-96192600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr5:96191800-96193000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:96191800-96194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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