Variant report

Variant	rs193994
Chromosome Location	chr5:96258723-96258724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96257613..96260808-chr5:96268504..96273197,4	MCF-7	breast:
2	chr5:96196694..96198422-chr5:96257589..96259904,2	K562	blood:
3	chr5:96258616..96260884-chr5:96271149..96273884,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 170 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10038651	0.91[ASN][1000 genomes]
rs10044354	0.91[ASN][1000 genomes]
rs10051637	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061936	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10069361	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071975	0.88[EUR][1000 genomes]
rs10076136	0.88[EUR][1000 genomes]
rs10077945	0.97[ASN][1000 genomes]
rs1019503	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1046396	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476696	0.91[ASN][1000 genomes]
rs1056893	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11135485	0.89[EUR][1000 genomes]
rs1216565	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1216568	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1216569	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1216570	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1230381	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1230382	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12716486	0.88[EUR][1000 genomes]
rs13163165	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13170029	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13358339	0.92[ASN][1000 genomes]
rs1363974	0.94[ASN][1000 genomes]
rs1363975	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1363977	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1423357	0.94[ASN][1000 genomes]
rs1423566	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423568	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1559267	0.88[EUR][1000 genomes]
rs17087165	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs171647	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs18059	0.81[ASN][1000 genomes]
rs1820149	0.88[EUR][1000 genomes]
rs187265	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs193993	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1981846	0.95[EUR][1000 genomes]
rs2042383	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2042385	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2112974	0.88[EUR][1000 genomes]
rs2113050	0.88[EUR][1000 genomes]
rs2113189	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2113190	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2113191	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2161548	0.91[ASN][1000 genomes]
rs2161657	0.94[EUR][1000 genomes]
rs2161658	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2247650	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2248374	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2255546	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2255633	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2255634	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2255637	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2287988	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2351010	0.94[ASN][1000 genomes]
rs2432141	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2432142	0.95[ASN][1000 genomes]
rs248215	0.81[EUR][1000 genomes]
rs251339	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs251342	0.94[EUR][1000 genomes]
rs251344	0.95[EUR][1000 genomes]
rs2548224	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2548516	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2548520	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2548521	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2548522	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2548523	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548524	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548526	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548527	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548528	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548529	0.94[EUR][1000 genomes]
rs2548533	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548534	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548535	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548536	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548537	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548538	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548539	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2548540	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2549781	0.91[EUR][1000 genomes]
rs2549782	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549784	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549785	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549786	0.83[EUR][1000 genomes]
rs2549787	0.94[EUR][1000 genomes]
rs2549788	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549789	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549790	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549791	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549792	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549795	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549796	0.94[EUR][1000 genomes]
rs2549797	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2549798	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2549799	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2549800	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2549801	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2617434	0.86[EUR][1000 genomes]
rs2617435	0.90[ASN][1000 genomes]
rs27289	0.82[ASN][1000 genomes]
rs27290	0.82[ASN][1000 genomes]
rs27292	0.85[EUR][1000 genomes]
rs27293	0.81[ASN][1000 genomes]
rs27294	0.88[EUR][1000 genomes]
rs27295	0.82[ASN][1000 genomes]
rs27296	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27298	0.82[ASN][1000 genomes]
rs27299	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27305	0.85[EUR][1000 genomes]
rs27397	0.85[EUR][1000 genomes]
rs27436	0.85[ASN][1000 genomes]
rs27613	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2762	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27621	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27659	0.82[ASN][1000 genomes]
rs27747	0.85[EUR][1000 genomes]
rs27998	0.81[ASN][1000 genomes]
rs2910686	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2910688	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2910787	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910788	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910789	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2927608	0.87[AFR][1000 genomes]
rs3096167	0.89[EUR][1000 genomes]
rs31398	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs33934033	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3797796	0.91[ASN][1000 genomes]
rs38030	0.88[EUR][1000 genomes]
rs38033	0.91[ASN][1000 genomes]
rs38034	0.91[ASN][1000 genomes]
rs38035	0.89[EUR][1000 genomes]
rs38036	0.89[EUR][1000 genomes]
rs38037	0.86[EUR][1000 genomes]
rs38038	0.85[ASN][1000 genomes]
rs38040	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38041	0.85[EUR][1000 genomes]
rs38042	0.85[EUR][1000 genomes]
rs38043	0.82[ASN][1000 genomes]
rs38044	0.80[ASN][1000 genomes]
rs3849750	0.94[EUR][1000 genomes]
rs3909451	0.94[ASN][1000 genomes]
rs42983	0.88[EUR][1000 genomes]
rs4360063	0.94[ASN][1000 genomes]
rs6556943	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6859160	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6870825	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6871162	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6873441	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6874656	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs6879678	0.86[EUR][1000 genomes]
rs6887500	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7700332	0.88[EUR][1000 genomes]
rs7703341	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7705093	0.81[ASN][1000 genomes]
rs7713127	0.93[EUR][1000 genomes]
rs7716222	0.94[ASN][1000 genomes]
rs7722694	0.88[EUR][1000 genomes]
rs7726445	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7731592	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7736466	0.93[EUR][1000 genomes]
rs9314181	0.91[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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs193994	ERAP2	cis	Artery Tibial	GTEx
rs193994	ERAP2	cis	Esophagus Mucosa	GTEx
rs193994	ERAP2	cis	Whole Blood	GTEx
rs193994	ERAP2	cis	Muscle Skeletal	GTEx
rs193994	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs193994	ERAP2	cis	Stomach	GTEx
rs193994	ERAP2	cis	Esophagus Muscularis	GTEx
rs193994	ERAP2	cis	Thyroid	GTEx
rs193994	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs193994	ERAP2	cis	lung	GTEx
rs193994	ERAP2	cis	Heart Left Ventricle	GTEx
rs193994	ERAP2	cis	Adipose Subcutaneous	GTEx
rs193994	ERAP2	cis	Artery Aorta	GTEx
rs193994	ERAP2	cis	Nerve Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
2	chr5:96218600-96259600	Weak transcription	HMEC	breast
3	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
4	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:96225600-96266400	Weak transcription	Gastric	stomach
6	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
7	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
8	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
11	chr5:96242000-96259800	Weak transcription	Fetal Stomach	stomach
12	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:96243600-96266400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:96245400-96259600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:96245400-96259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:96245800-96264600	Weak transcription	Left Ventricle	heart
17	chr5:96246000-96268200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:96247400-96259600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:96249600-96267800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:96249800-96264600	Weak transcription	Spleen	Spleen
22	chr5:96249800-96270000	Weak transcription	Lung	lung
23	chr5:96250400-96259800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:96253600-96259200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:96253800-96265800	Weak transcription	Thymus	Thymus
26	chr5:96254000-96267200	Weak transcription	Adipose Nuclei	Adipose
27	chr5:96254000-96268600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:96254200-96259600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:96254400-96259600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:96254800-96262600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:96255000-96259600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:96255000-96259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:96255600-96259600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:96256000-96259000	Weak transcription	Psoas Muscle	Psoas
35	chr5:96256000-96259600	Weak transcription	Fetal Thymus	thymus
36	chr5:96256000-96260600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:96256000-96266400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:96256200-96259600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:96256200-96260800	Weak transcription	Liver	Liver
40	chr5:96256200-96264000	Weak transcription	Dnd41	blood
41	chr5:96256200-96267000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:96256400-96266600	Weak transcription	Primary B cells from cord blood	blood
43	chr5:96256600-96259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:96257000-96259200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:96257000-96259400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:96257000-96259600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:96257000-96259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:96257000-96259600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:96257200-96265800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:96257400-96259600	Weak transcription	Colon Smooth Muscle	Colon

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