Variant report

Variant	rs7705093
Chromosome Location	chr5:96290647-96290648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96268650..96270760-chr5:96289002..96291090,2	MCF-7	breast:
2	chr5:96288865..96290845-chr5:96309578..96312231,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10038651	0.81[ASN][1000 genomes]
rs10044354	0.81[ASN][1000 genomes]
rs10051637	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10058476	0.84[AMR][1000 genomes]
rs10061936	0.84[ASN][1000 genomes]
rs10069361	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10077945	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1046396	0.84[ASN][1000 genomes]
rs10476696	0.81[ASN][1000 genomes]
rs1216568	0.80[ASN][1000 genomes]
rs13170029	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13358339	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1363974	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1423357	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1423566	0.84[ASN][1000 genomes]
rs1544777	0.81[AMR][1000 genomes]
rs193994	0.81[ASN][1000 genomes]
rs2161548	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2351010	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2432141	0.84[ASN][1000 genomes]
rs2432142	0.82[ASN][1000 genomes]
rs2548224	0.82[ASN][1000 genomes]
rs2548516	0.84[ASN][1000 genomes]
rs2617435	0.81[ASN][1000 genomes]
rs2762	0.84[ASN][1000 genomes]
rs2910787	0.84[ASN][1000 genomes]
rs2910788	0.84[ASN][1000 genomes]
rs2910789	0.84[ASN][1000 genomes]
rs3797796	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs38033	0.81[ASN][1000 genomes]
rs38034	0.81[ASN][1000 genomes]
rs3909451	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4360063	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6870825	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6871162	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6887500	0.81[ASN][1000 genomes]
rs7703341	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7716222	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7726445	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7731592	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9314181	0.81[ASN][1000 genomes]

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

Variant related diseases (count:1)

Disease	PMID	Source
Birdshot chorioretinopathy	24957906	GWAS catalog

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7705093	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs7705093	ERAP2	cis	Whole Blood	GTEx
rs7705093	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs7705093	ERAP2	cis	Artery Tibial	GTEx
rs7705093	ERAP2	cis	lung	GTEx
rs7705093	ERAP2	cis	Stomach	GTEx
rs7705093	AC008865.1	cis	Artery Tibial	GTEx
rs7705093	ERAP2	cis	Heart Left Ventricle	GTEx
rs7705093	ERAP2	cis	Thyroid	GTEx
rs7705093	ERAP2	cis	Esophagus Mucosa	GTEx
rs7705093	ERAP2	cis	Adipose Subcutaneous	GTEx
rs7705093	ERAP2	cis	Artery Aorta	GTEx
rs7705093	ERAP2	cis	Nerve Tibial	GTEx
rs7705093	ERAP2	cis	Esophagus Muscularis	GTEx
rs7705093	ERAP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
2	chr5:96273400-96292800	Weak transcription	K562	blood
3	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:96274600-96298400	Weak transcription	HSMM	muscle
6	chr5:96277800-96303800	Weak transcription	Pancreas	Pancrea
7	chr5:96278000-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:96278200-96292400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
10	chr5:96279800-96298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:96279800-96303800	Weak transcription	Esophagus	oesophagus
12	chr5:96282000-96292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:96282200-96292800	Weak transcription	NHLF	lung
14	chr5:96282200-96303800	Weak transcription	Spleen	Spleen
15	chr5:96283400-96296600	Weak transcription	NHDF-Ad	bronchial
16	chr5:96285200-96292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:96285400-96291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:96285400-96292000	Weak transcription	Fetal Thymus	thymus
19	chr5:96285400-96293000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:96285400-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:96285400-96304400	Weak transcription	Fetal Intestine Small	intestine
22	chr5:96286200-96293000	Weak transcription	Thymus	Thymus
23	chr5:96286400-96303800	Weak transcription	Right Ventricle	heart
24	chr5:96286800-96291400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:96287800-96292800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:96288200-96293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:96288400-96303800	Weak transcription	Fetal Stomach	stomach
28	chr5:96288800-96290800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:96288800-96296200	Weak transcription	Osteobl	bone
30	chr5:96288800-96296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:96289000-96291000	Weak transcription	Placenta	Placenta
32	chr5:96289000-96291800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:96289000-96292400	Weak transcription	HepG2	liver
34	chr5:96289000-96293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96289000-96293000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:96289000-96294400	Weak transcription	Left Ventricle	heart
37	chr5:96289000-96297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:96289000-96297800	Weak transcription	Right Atrium	heart
39	chr5:96289000-96298800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:96289200-96293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:96289200-96293200	Weak transcription	Small Intestine	intestine
42	chr5:96289200-96296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:96289400-96292800	Weak transcription	Psoas Muscle	Psoas
44	chr5:96289400-96292800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:96289400-96293200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:96289800-96292800	Weak transcription	Liver	Liver
47	chr5:96289800-96297600	Weak transcription	HMEC	breast
48	chr5:96289800-96297800	Weak transcription	Stomach Mucosa	stomach
49	chr5:96290000-96291600	Weak transcription	Primary T cells from cord blood	blood
50	chr5:96290000-96293200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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