Variant report

Variant	rs41506651
Chromosome Location	chr5:96215680-96215681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr5:96215350-96216301	GM12891	blood:	n/a	n/a
2	POLR2A	chr5:96215646-96216578	HUVEC	blood vessel:	n/a	n/a
3	WRNIP1	chr5:96215421-96215842	GM12878	blood:	n/a	n/a
4	EBF1	chr5:96215421-96215786	GM12878	blood:	n/a	n/a
5	EBF1	chr5:96215426-96215816	GM12878	blood:	n/a	n/a
6	RUNX3	chr5:96215354-96215877	GM12878	blood:	n/a	n/a
7	CTCF	chr5:96215438-96215764	GM12878	blood:	n/a	n/a
8	RELA	chr5:96215347-96216006	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:
2	chr5:96210113..96212141-chr5:96215069..96217476,2	K562	blood:

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000164308	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11746232	1.00[CHB][hapmap]
rs152019	1.00[CHB][hapmap]
rs56414182	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62364750	1.00[ASN][1000 genomes]
rs62364751	1.00[ASN][1000 genomes]
rs62364752	1.00[ASN][1000 genomes]
rs62364753	1.00[ASN][1000 genomes]
rs62376386	1.00[ASN][1000 genomes]
rs62376389	1.00[ASN][1000 genomes]
rs62376391	1.00[ASN][1000 genomes]
rs62376392	1.00[ASN][1000 genomes]
rs62376414	1.00[ASN][1000 genomes]
rs62376415	1.00[ASN][1000 genomes]
rs62376416	1.00[ASN][1000 genomes]
rs62376418	1.00[ASN][1000 genomes]
rs62376419	1.00[ASN][1000 genomes]
rs62376420	1.00[ASN][1000 genomes]
rs62376449	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs41506651	ERAP2	cis	lymphoblastoid	seeQTL
rs41506651	ERAP1	cis	cerebellum	SCAN
rs41506651	ERAP2	cis	cerebellum	SCAN
rs41506651	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs41506651	ERAP2	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:96212600-96217000	Weak transcription	Gastric	stomach
5	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
6	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
9	chr5:96213000-96216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:96213000-96217000	Weak transcription	Lung	lung
11	chr5:96213000-96217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
13	chr5:96213200-96215800	Weak transcription	Placenta	Placenta
14	chr5:96213200-96217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:96213200-96217000	Weak transcription	Psoas Muscle	Psoas
16	chr5:96213200-96217200	Weak transcription	HSMM	muscle
17	chr5:96213200-96217400	Weak transcription	Right Ventricle	heart
18	chr5:96213200-96221600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:96213200-96225200	Weak transcription	Ovary	ovary
20	chr5:96213200-96229200	Weak transcription	Aorta	Aorta
21	chr5:96213400-96215800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:96213400-96216000	Weak transcription	NHDF-Ad	bronchial
23	chr5:96213400-96216200	Weak transcription	K562	blood
24	chr5:96213400-96216200	Weak transcription	Osteobl	bone
25	chr5:96213400-96216800	Weak transcription	Colonic Mucosa	Colon
26	chr5:96213400-96216800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:96213400-96217000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:96213400-96217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:96213400-96217000	Weak transcription	Right Atrium	heart
30	chr5:96213400-96217200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:96213400-96217200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:96213400-96217600	Weak transcription	Brain Anterior Caudate	brain
33	chr5:96213400-96219000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:96213400-96221400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:96213400-96221600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:96213400-96223600	Weak transcription	Fetal Kidney	kidney
37	chr5:96213400-96237800	Weak transcription	Brain Substantia Nigra	brain
38	chr5:96213400-96243800	Weak transcription	HepG2	liver
39	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
40	chr5:96213600-96215800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:96213600-96216000	Weak transcription	NHLF	lung
42	chr5:96213600-96216800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:96213600-96216800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:96213600-96217400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:96213800-96216000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:96213800-96216000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:96213800-96216000	Weak transcription	Hela-S3	cervix
48	chr5:96213800-96216400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:96213800-96216600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:96213800-96217000	Weak transcription	Liver	Liver

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