Variant report

Variant	rs13170029
Chromosome Location	chr5:96279053-96279054
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	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10038651	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10044354	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10051637	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058476	0.87[EUR][1000 genomes]
rs10061936	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069361	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077945	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046395	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1046396	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476696	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1056893	0.81[AFR][1000 genomes]
rs1216565	0.89[AFR][1000 genomes]
rs1216566	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1216567	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1216568	0.96[ASN][1000 genomes]
rs1216569	0.88[AFR][1000 genomes]
rs1216570	0.86[AFR][1000 genomes]
rs1216571	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12716486	0.81[AFR][1000 genomes]
rs13358339	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363907	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1363908	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1363974	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363975	0.85[AFR][1000 genomes]
rs1363976	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1363977	0.85[AFR][1000 genomes]
rs1423357	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423566	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477364	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1544777	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17087165	0.81[AFR][1000 genomes]
rs18059	0.84[ASN][1000 genomes]
rs1820148	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1820149	0.81[AFR][1000 genomes]
rs193994	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113191	0.81[AFR][1000 genomes]
rs2161548	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255546	0.85[AFR][1000 genomes]
rs2255633	0.85[AFR][1000 genomes]
rs2255634	0.85[AFR][1000 genomes]
rs2255637	0.85[AFR][1000 genomes]
rs2351010	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351011	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2432141	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432142	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251340	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs251341	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2548224	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2548226	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2548516	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548520	0.82[AFR][1000 genomes]
rs2548521	0.81[AFR][1000 genomes]
rs2548523	0.80[AFR][1000 genomes]
rs2548524	0.82[AFR][1000 genomes]
rs2548530	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2548532	0.91[EUR][1000 genomes]
rs2549783	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549789	0.81[AFR][1000 genomes]
rs2549790	0.81[AFR][1000 genomes]
rs2549792	0.81[AFR][1000 genomes]
rs2549794	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2549795	0.81[AFR][1000 genomes]
rs2549797	0.81[AFR][1000 genomes]
rs2549800	0.84[AFR][1000 genomes]
rs2549801	0.85[AFR][1000 genomes]
rs2617434	0.85[AFR][1000 genomes]
rs2617435	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617439	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2617447	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs27289	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27290	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27293	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27294	0.82[ASN][1000 genomes]
rs27295	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27296	0.83[ASN][1000 genomes]
rs27298	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27299	0.83[ASN][1000 genomes]
rs27300	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27302	0.80[ASN][1000 genomes]
rs27306	0.86[EUR][1000 genomes]
rs27307	0.86[EUR][1000 genomes]
rs27436	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27613	0.85[ASN][1000 genomes]
rs2762	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27621	0.83[ASN][1000 genomes]
rs27659	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27660	0.85[EUR][1000 genomes]
rs27711	0.85[EUR][1000 genomes]
rs27712	0.83[EUR][1000 genomes]
rs27993	0.85[EUR][1000 genomes]
rs27998	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2859491	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2910686	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2910687	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2910688	0.84[AFR][1000 genomes]
rs2910787	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910788	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910789	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910793	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2927608	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2927609	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs31398	0.83[ASN][1000 genomes]
rs33934033	0.81[AFR][1000 genomes]
rs3797796	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38029	0.85[EUR][1000 genomes]
rs38030	0.82[ASN][1000 genomes]
rs38031	0.85[EUR][1000 genomes]
rs38032	0.88[EUR][1000 genomes]
rs38033	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38034	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38038	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38039	0.85[EUR][1000 genomes]
rs38040	0.88[ASN][1000 genomes]
rs38043	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38044	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3849749	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3909451	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39602	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42983	0.81[ASN][1000 genomes]
rs4360063	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859168	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6870825	0.98[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871162	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873866	0.80[AMR][1000 genomes]
rs6887500	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716848	0.92[EUR][1000 genomes]
rs7703341	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705093	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7713127	0.81[EUR][1000 genomes]
rs7716222	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719705	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7726445	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731592	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733312	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7736466	0.81[EUR][1000 genomes]
rs9314181	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv980700	chr5:96277931-96279547	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs13170029	ERAP2	cis	Muscle Skeletal	GTEx
rs13170029	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs13170029	AC008865.1	cis	Artery Tibial	GTEx
rs13170029	ERAP2	cis	Thyroid	GTEx
rs13170029	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs13170029	ERAP2	cis	Artery Aorta	GTEx
rs13170029	ERAP2	cis	Heart Left Ventricle	GTEx
rs13170029	ERAP2	cis	lung	GTEx
rs13170029	ERAP2	cis	Artery Tibial	GTEx
rs13170029	ERAP2	cis	Esophagus Muscularis	GTEx
rs13170029	ERAP2	cis	Whole Blood	GTEx
rs13170029	ERAP2	cis	Nerve Tibial	GTEx
rs13170029	ERAP2	cis	Adipose Subcutaneous	GTEx
rs13170029	ERAP2	cis	Esophagus Mucosa	GTEx
rs13170029	ERAP2	cis	Stomach	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
2	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
4	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
5	chr5:96273200-96279600	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:96273400-96281000	Weak transcription	Fetal Lung	lung
7	chr5:96273400-96292800	Weak transcription	K562	blood
8	chr5:96273600-96280200	Weak transcription	HUVEC	blood vessel
9	chr5:96273800-96283000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:96273800-96285000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
13	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:96274200-96280000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:96274400-96279800	Weak transcription	Hela-S3	cervix
16	chr5:96274400-96282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:96274400-96282000	Weak transcription	A549	lung
18	chr5:96274400-96288200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:96274600-96279600	Weak transcription	Right Atrium	heart
20	chr5:96274600-96279600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:96274600-96281000	Weak transcription	Small Intestine	intestine
22	chr5:96274600-96281200	Weak transcription	Brain Anterior Caudate	brain
23	chr5:96274600-96281200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:96274600-96286000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:96274600-96287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:96274600-96288000	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:96274600-96288800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:96274600-96298400	Weak transcription	HSMM	muscle
30	chr5:96274800-96288400	Weak transcription	HepG2	liver
31	chr5:96275200-96279600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:96275800-96284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:96275800-96284800	Weak transcription	Primary B cells from cord blood	blood
34	chr5:96276000-96288000	Weak transcription	Fetal Heart	heart
35	chr5:96276400-96279800	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr5:96276400-96279800	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr5:96276600-96279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:96276600-96279200	Weak transcription	HMEC	breast
39	chr5:96276600-96288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:96276800-96282000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:96277000-96279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:96277000-96288400	Weak transcription	Psoas Muscle	Psoas
43	chr5:96277600-96280000	Enhancers	NHDF-Ad	bronchial
44	chr5:96277800-96279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:96277800-96279200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:96277800-96279600	Weak transcription	Dnd41	blood
47	chr5:96277800-96279800	Enhancers	NHEK	skin
48	chr5:96277800-96280600	Enhancers	Placenta	Placenta
49	chr5:96277800-96284800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:96277800-96284800	Weak transcription	Thymus	Thymus

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