Variant report

Variant	rs1559267
Chromosome Location	chr5:96303698-96303699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96269146..96273462-chr5:96303076..96306063,4	K562	blood:
2	chr5:96270323..96273462-chr5:96303573..96306063,3	K562	blood:
3	chr5:96300540..96303840-chr5:96308745..96312405,3	K562	blood:
4	chr5:96269264..96270961-chr5:96303630..96305145,2	MCF-7	breast:
5	chr5:96298450..96301775-chr5:96302715..96306626,4	K562	blood:
6	chr5:96299898..96301682-chr5:96303117..96306116,2	MCF-7	breast:
7	chr5:96269421..96271769-chr5:96303403..96305947,2	MCF-7	breast:
8	chr5:96303050..96305994-chr5:96318731..96320478,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000200884	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10038651	0.81[EUR][1000 genomes]
rs10044354	0.81[EUR][1000 genomes]
rs10061936	0.88[EUR][1000 genomes]
rs10069361	0.92[EUR][1000 genomes]
rs10071975	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076136	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019503	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10476696	0.81[EUR][1000 genomes]
rs1056893	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11135485	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1216565	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1216568	0.83[EUR][1000 genomes]
rs1216569	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1216570	0.90[ASN][1000 genomes]
rs1230381	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230382	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12516666	0.81[ASN][1000 genomes]
rs12716486	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163165	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13358339	0.81[EUR][1000 genomes]
rs1363974	0.81[EUR][1000 genomes]
rs1363975	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1363977	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1423357	0.81[EUR][1000 genomes]
rs1423568	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17087165	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs171647	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1820149	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187265	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193993	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs193994	0.88[EUR][1000 genomes]
rs1981846	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2042383	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2042385	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2112974	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113050	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113189	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113190	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2113191	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161548	0.81[EUR][1000 genomes]
rs2161657	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2161658	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247650	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2248374	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255546	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255633	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255634	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255637	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287988	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2351010	0.82[EUR][1000 genomes]
rs248215	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs251339	0.81[EUR][1000 genomes]
rs251342	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251344	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548520	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548521	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548522	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548523	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548524	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548526	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548527	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548528	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548529	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548533	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548534	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548535	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548536	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548537	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548538	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548539	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2548540	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549781	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549782	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549784	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549785	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549787	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549788	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549789	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549790	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549791	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549792	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549795	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549796	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549797	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2549798	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2549799	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549800	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549801	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617434	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27292	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27294	0.89[EUR][1000 genomes]
rs27296	0.87[EUR][1000 genomes]
rs27299	0.84[EUR][1000 genomes]
rs27305	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27397	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27613	0.90[EUR][1000 genomes]
rs27621	0.87[EUR][1000 genomes]
rs27747	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2910686	0.89[ASN][1000 genomes]
rs2910688	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2910787	0.92[EUR][1000 genomes]
rs2927608	0.81[ASN][1000 genomes]
rs3096167	0.83[EUR][1000 genomes]
rs31398	0.89[EUR][1000 genomes]
rs33934033	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3734015	0.81[ASN][1000 genomes]
rs3797796	0.83[EUR][1000 genomes]
rs38030	0.89[EUR][1000 genomes]
rs38033	0.82[EUR][1000 genomes]
rs38034	0.82[EUR][1000 genomes]
rs38035	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38036	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs38037	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs38040	0.90[EUR][1000 genomes]
rs38041	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38042	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3849750	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3909451	0.81[EUR][1000 genomes]
rs42983	0.90[EUR][1000 genomes]
rs4360063	0.82[EUR][1000 genomes]
rs4869314	0.81[ASN][1000 genomes]
rs56197090	0.81[ASN][1000 genomes]
rs6556943	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6859160	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6870825	0.92[EUR][1000 genomes]
rs6873441	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874656	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879678	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7700332	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713127	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7716222	0.81[EUR][1000 genomes]
rs7722694	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7736466	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9127	0.84[EUR][1000 genomes]
rs9314181	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1559267	ERAP2	cis	Artery Aorta	GTEx
rs1559267	ERAP2	cis	Whole Blood	GTEx
rs1559267	ERAP2	cis	Muscle Skeletal	GTEx
rs1559267	ERAP2	cis	Nerve Tibial	GTEx
rs1559267	ERAP2	cis	Esophagus Mucosa	GTEx
rs1559267	ERAP2	cis	Thyroid	GTEx
rs1559267	ERAP2	cis	Stomach	GTEx
rs1559267	ERAP2	cis	Heart Left Ventricle	GTEx
rs1559267	ERAP2	cis	lung	GTEx
rs1559267	ERAP2	cis	Artery Tibial	GTEx
rs1559267	ERAP2	cis	Adipose Subcutaneous	GTEx
rs1559267	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1559267	ERAP2	cis	Esophagus Muscularis	GTEx
rs1559267	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96277800-96303800	Weak transcription	Pancreas	Pancrea
2	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:96279800-96303800	Weak transcription	Esophagus	oesophagus
4	chr5:96282200-96303800	Weak transcription	Spleen	Spleen
5	chr5:96285400-96304400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:96286400-96303800	Weak transcription	Right Ventricle	heart
7	chr5:96288400-96303800	Weak transcription	Fetal Stomach	stomach
8	chr5:96298000-96304000	Weak transcription	Fetal Kidney	kidney
9	chr5:96298000-96309200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:96298600-96307800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:96299000-96307800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:96299200-96303800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:96299200-96303800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:96299200-96303800	Weak transcription	Psoas Muscle	Psoas
15	chr5:96299200-96303800	Weak transcription	Stomach Mucosa	stomach
16	chr5:96299200-96304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:96299400-96303800	Weak transcription	Brain Angular Gyrus	brain
18	chr5:96299400-96303800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:96299400-96303800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:96299400-96303800	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:96299400-96303800	Weak transcription	Placenta	Placenta
22	chr5:96299400-96303800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:96299400-96304200	Weak transcription	Right Atrium	heart
24	chr5:96299400-96304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:96299400-96304400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:96299400-96304400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:96299400-96304400	Weak transcription	Left Ventricle	heart
28	chr5:96299400-96305800	Enhancers	Primary T cells from cord blood	blood
29	chr5:96299400-96308200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:96299400-96314800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:96299400-96315000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:96299600-96303800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:96299600-96304000	Weak transcription	HSMMtube	muscle
34	chr5:96299600-96304600	Weak transcription	Liver	Liver
35	chr5:96299600-96315000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:96299800-96303800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:96299800-96303800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:96299800-96304200	Weak transcription	Small Intestine	intestine
39	chr5:96299800-96304400	Weak transcription	Fetal Thymus	thymus
40	chr5:96299800-96307800	Weak transcription	Thymus	Thymus
41	chr5:96299800-96308000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:96299800-96308200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:96299800-96314800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:96300000-96303800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:96300000-96303800	Weak transcription	Dnd41	blood
46	chr5:96300000-96304400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:96300000-96306400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:96300600-96303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:96301000-96303800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:96301200-96304600	Strong transcription	Primary B cells from cord blood	blood

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