Variant report

Variant	rs7722694
Chromosome Location	chr5:96319491-96319492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96269233..96272030-chr5:96318057..96319650,2	MCF-7	breast:
2	chr5:96318317..96320679-chr5:96324644..96327086,2	K562	blood:
3	chr5:96303050..96305994-chr5:96318731..96320478,2	K562	blood:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10038651	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10044354	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10051637	0.80[AFR][1000 genomes]
rs10061936	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10069361	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10071975	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10076136	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10077945	0.80[AFR][1000 genomes]
rs1019503	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10476696	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1056893	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11135485	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216565	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1216568	0.83[EUR][1000 genomes]
rs1216569	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1216570	0.87[ASN][1000 genomes]
rs1230381	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1230382	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12716486	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13163165	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13358339	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1363974	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1363975	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1363977	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1423357	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1423568	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1559267	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17087165	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs171647	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1820149	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187265	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs193993	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs193994	0.88[EUR][1000 genomes]
rs1981846	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2042383	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2042385	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2112974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113189	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2113190	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2113191	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2161548	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2161657	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2161658	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2247650	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2248374	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255546	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255633	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255634	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255637	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287988	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351010	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs248215	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251339	0.81[EUR][1000 genomes]
rs251342	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251344	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548520	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548521	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548522	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548523	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548524	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548526	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548527	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548528	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548529	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548533	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548534	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548535	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548536	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548537	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548538	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548539	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2548540	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549781	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549782	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549784	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549785	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549787	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549788	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549789	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549790	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549791	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549792	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549795	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549796	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549797	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549798	0.86[EUR][1000 genomes]
rs2549799	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2549800	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549801	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617434	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27289	0.85[AFR][1000 genomes]
rs27290	0.85[AFR][1000 genomes]
rs27292	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27293	0.82[AFR][1000 genomes]
rs27294	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs27295	0.83[AFR][1000 genomes]
rs27296	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs27298	0.82[AFR][1000 genomes]
rs27299	0.84[EUR][1000 genomes]
rs27300	0.81[AFR][1000 genomes]
rs27305	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27397	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27436	0.87[AFR][1000 genomes]
rs27613	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs27621	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs27659	0.85[AFR][1000 genomes]
rs27747	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27998	0.82[AFR][1000 genomes]
rs2910686	0.86[ASN][1000 genomes]
rs2910688	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2910787	0.91[EUR][1000 genomes]
rs3096167	0.83[EUR][1000 genomes]
rs31398	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs33934033	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797796	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs38030	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs38033	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs38034	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs38035	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38036	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38037	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38038	0.87[AFR][1000 genomes]
rs38040	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs38041	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38042	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38044	0.86[AFR][1000 genomes]
rs3849750	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3909451	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs39602	0.82[AFR][1000 genomes]
rs42983	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4360063	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6556943	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6859160	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6870825	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6871162	0.80[AFR][1000 genomes]
rs6873441	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874656	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879678	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7700332	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703341	0.82[AFR][1000 genomes]
rs7713127	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7716222	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7726445	0.80[AFR][1000 genomes]
rs7731592	0.82[AFR][1000 genomes]
rs7736466	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9127	0.84[EUR][1000 genomes]
rs9314181	0.98[AFR][1000 genomes];0.82[EUR][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	nsv969268	chr5:96317607-96327820	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs7722694	ERAP2	cis	Muscle Skeletal	GTEx
rs7722694	ERAP2	cis	Thyroid	GTEx
rs7722694	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs7722694	ERAP2	cis	Nerve Tibial	GTEx
rs7722694	ERAP2	cis	Heart Left Ventricle	GTEx
rs7722694	ERAP2	cis	Esophagus Muscularis	GTEx
rs7722694	ERAP2	cis	lung	GTEx
rs7722694	ERAP2	cis	Stomach	GTEx
rs7722694	ERAP2	cis	Esophagus Mucosa	GTEx
rs7722694	ERAP2	cis	Artery Tibial	GTEx
rs7722694	ERAP2	cis	Artery Aorta	GTEx
rs7722694	ERAP2	cis	Adipose Subcutaneous	GTEx
rs7722694	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs7722694	ERAP2	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
2	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
3	chr5:96304800-96346600	Weak transcription	Lung	lung
4	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
5	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:96313200-96325400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96313200-96330000	Weak transcription	HSMMtube	muscle
8	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
11	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
13	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
14	chr5:96314400-96319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:96314400-96343800	Strong transcription	Dnd41	blood
16	chr5:96314800-96319800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
20	chr5:96315400-96320800	Weak transcription	Small Intestine	intestine
21	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:96315600-96320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:96315600-96320200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:96315600-96320600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:96315600-96320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:96315600-96321400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:96315600-96321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:96315600-96321400	Weak transcription	Aorta	Aorta
29	chr5:96315600-96321400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:96315600-96321400	Weak transcription	Fetal Stomach	stomach
31	chr5:96315600-96321400	Weak transcription	Gastric	stomach
32	chr5:96315600-96321400	Weak transcription	Left Ventricle	heart
33	chr5:96315600-96321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:96315600-96321400	Weak transcription	Thymus	Thymus
35	chr5:96315600-96321600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:96315600-96321600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:96315600-96321600	Weak transcription	Psoas Muscle	Psoas
38	chr5:96315600-96321600	Weak transcription	Right Ventricle	heart
39	chr5:96315600-96321600	Weak transcription	A549	lung
40	chr5:96315600-96326000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:96315600-96329200	Weak transcription	Brain Germinal Matrix	brain
42	chr5:96315600-96329600	Weak transcription	Esophagus	oesophagus
43	chr5:96315600-96329600	Weak transcription	HepG2	liver
44	chr5:96315600-96330400	Weak transcription	Spleen	Spleen
45	chr5:96315600-96335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
47	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
48	chr5:96315800-96320400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:96315800-96320400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:96315800-96321400	Weak transcription	Ovary	ovary

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