Variant report

Variant	rs1477364
Chromosome Location	chr5:96284892-96284893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96284801..96287176-chr5:96287402..96289918,2	K562	blood:
2	chr5:96284375..96286567-chr5:96287719..96289798,2	MCF-7	breast:
3	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
4	chr5:96271163..96274552-chr5:96284400..96287788,3	K562	blood:
5	chr5:96283195..96285644-chr5:96298077..96300490,2	MCF-7	breast:
6	chr5:96273987..96276644-chr5:96284766..96287407,2	MCF-7	breast:
7	chr5:96284878..96287176-chr5:96288100..96289918,2	K562	blood:

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

Extended variants
information (count: 118 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10038651	0.88[EUR][1000 genomes]
rs10044354	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10051637	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10058476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10069361	0.80[EUR][1000 genomes]
rs10077945	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10434709	0.85[CEU][hapmap]
rs1046395	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1046396	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10476696	0.88[EUR][1000 genomes]
rs11135484	0.85[CEU][hapmap]
rs1216566	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216567	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216571	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230358	0.83[JPT][hapmap]
rs12516666	0.86[CEU][hapmap]
rs13167902	0.85[CEU][hapmap]
rs13170029	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13358339	0.88[EUR][1000 genomes]
rs1363907	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1363908	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1363974	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1363976	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1423357	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1423566	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1559355	0.86[CEU][hapmap]
rs1820148	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974871	0.89[CEU][hapmap]
rs2113050	0.81[CEU][hapmap]
rs2161548	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2247650	0.83[CEU][hapmap]
rs2278018	0.86[CEU][hapmap]
rs2278019	0.85[CEU][hapmap]
rs2351010	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2351011	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2432141	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2432142	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs251339	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251340	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251341	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251343	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2548224	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2548226	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548516	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2548529	0.80[CEU][hapmap];0.90[CHB][hapmap]
rs2548530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548532	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549778	0.83[JPT][hapmap]
rs2549783	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2549794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617435	0.83[EUR][1000 genomes]
rs2617439	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27289	0.85[EUR][1000 genomes]
rs27290	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs27293	0.85[EUR][1000 genomes]
rs27295	0.85[EUR][1000 genomes]
rs27300	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs27306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27436	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2762	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs27659	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs27660	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs27993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27998	0.81[EUR][1000 genomes]
rs2859491	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910686	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2910687	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910787	0.80[EUR][1000 genomes]
rs2910788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2910789	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2910793	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2927608	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2927609	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3734015	0.86[CEU][hapmap]
rs3797796	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs38029	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38031	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38032	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38033	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs38034	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs38038	0.86[EUR][1000 genomes]
rs38039	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38042	0.83[CEU][hapmap]
rs38043	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs38044	0.86[EUR][1000 genomes]
rs3849749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3909451	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs39602	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs4360063	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4869314	0.86[CEU][hapmap]
rs55770741	0.81[EUR][1000 genomes]
rs6556942	0.96[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs6859168	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6870825	0.80[EUR][1000 genomes]
rs6871162	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6887500	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs716848	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7703341	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7716222	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7719705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7726445	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7731592	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7733312	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9127	0.92[CEU][hapmap]
rs9314181	0.88[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	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:20)

SNP	Gene	Cis/trans	Tissue	Source
rs1477364	ERAP2	cis	Adipose Subcutaneous	GTEx
rs1477364	LRAP	cis	lesional skin	skin_eQTL
rs1477364	AC008865.1	cis	Artery Tibial	GTEx
rs1477364	ERAP2	cis	Esophagus Muscularis	GTEx
rs1477364	ERAP2	cis	Nerve Tibial	GTEx
rs1477364	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1477364	ERAP2	cis	Artery Aorta	GTEx
rs1477364	ERAP2	cis	Artery Tibial	GTEx
rs1477364	ERAP2	cis	Stomach	GTEx
rs1477364	ERAP2	cis	Heart Left Ventricle	GTEx
rs1477364	ERAP2	cis	lung	GTEx
rs1477364	ERAP2	cis	Esophagus Mucosa	GTEx
rs1477364	ERAP2	cis	Whole Blood	GTEx
rs1477364	LNPEP	cis	Artery Tibial	GTEx
rs1477364	LNPEP	cis	Esophagus Muscularis	GTEx
rs1477364	LRAP	cis	uninvolved skin	skin_eQTL
rs1477364	ERAP2	cis	Thyroid	GTEx
rs1477364	ERAP2	cis	Muscle Skeletal	GTEx
rs1477364	LRAP	cis	normal skin	skin_eQTL
rs1477364	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
3	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
4	chr5:96273400-96292800	Weak transcription	K562	blood
5	chr5:96273800-96285000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
8	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:96274400-96288200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:96274600-96286000	Weak transcription	Adipose Nuclei	Adipose
11	chr5:96274600-96287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:96274600-96288000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:96274600-96288800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:96274600-96298400	Weak transcription	HSMM	muscle
16	chr5:96274800-96288400	Weak transcription	HepG2	liver
17	chr5:96276000-96288000	Weak transcription	Fetal Heart	heart
18	chr5:96276600-96288000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:96277000-96288400	Weak transcription	Psoas Muscle	Psoas
20	chr5:96277800-96303800	Weak transcription	Pancreas	Pancrea
21	chr5:96278000-96296000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:96278200-96285800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:96278200-96292400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
25	chr5:96279000-96286600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:96279000-96290400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:96279800-96285800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:96279800-96288000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:96279800-96298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:96279800-96303800	Weak transcription	Esophagus	oesophagus
31	chr5:96280200-96285800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:96281600-96285600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:96282000-96292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:96282200-96288000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:96282200-96288000	Weak transcription	Small Intestine	intestine
36	chr5:96282200-96292800	Weak transcription	NHLF	lung
37	chr5:96282200-96303800	Weak transcription	Spleen	Spleen
38	chr5:96282400-96288200	Weak transcription	NHEK	skin
39	chr5:96282400-96288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:96282800-96285800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:96283400-96285200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:96283400-96286000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:96283400-96288400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:96283400-96296600	Weak transcription	NHDF-Ad	bronchial
45	chr5:96283800-96285000	Weak transcription	Primary T cells from cord blood	blood
46	chr5:96284200-96286200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:96284200-96286400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:96284400-96285400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:96284400-96285600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr5:96284600-96285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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