Variant report

Variant	rs9127
Chromosome Location	chr5:96372165-96372166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96367838..96370806-chr5:96371890..96374620,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-4	chr5:96371987-96373214	NONHSAT102920

Extended variants
information (count: 121 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10044354	0.81[CEU][hapmap]
rs10051637	0.81[CEU][hapmap]
rs10058476	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs10069361	0.88[CEU][hapmap]
rs10071975	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10076136	0.84[EUR][1000 genomes]
rs10434709	0.96[CEU][hapmap]
rs1056893	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs11135484	0.96[CEU][hapmap];0.81[CHD][hapmap]
rs1216565	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1216569	0.81[EUR][1000 genomes]
rs12516666	0.96[CEU][hapmap]
rs12716486	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs13167902	0.96[CEU][hapmap];0.93[CHD][hapmap]
rs1363907	0.92[CEU][hapmap]
rs1363974	0.81[CEU][hapmap]
rs1423357	0.81[CEU][hapmap]
rs1477364	0.92[CEU][hapmap]
rs1544777	0.92[CEU][hapmap]
rs1559267	0.84[EUR][1000 genomes]
rs1559355	0.96[CEU][hapmap]
rs1820149	0.84[EUR][1000 genomes]
rs187265	0.85[CEU][hapmap]
rs1974871	0.96[CEU][hapmap]
rs1981846	0.81[CEU][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]
rs2042385	0.85[CEU][hapmap]
rs2112974	0.84[EUR][1000 genomes]
rs2113050	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes]
rs2113189	0.87[CEU][hapmap]
rs2161548	0.80[CEU][hapmap]
rs2161657	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2161658	0.85[CEU][hapmap]
rs2247650	0.96[CEU][hapmap]
rs2255546	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2255633	0.85[CEU][hapmap]
rs2255634	0.85[CEU][hapmap]
rs2255637	0.85[CEU][hapmap]
rs2278018	0.96[CEU][hapmap]
rs2278019	0.96[CEU][hapmap]
rs2287988	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2351010	0.81[CEU][hapmap]
rs248215	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs251339	0.96[CEU][hapmap]
rs251344	0.85[CEU][hapmap]
rs2548523	0.85[CEU][hapmap]
rs2548524	0.85[CEU][hapmap]
rs2548527	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2548529	0.92[CEU][hapmap]
rs2548530	0.92[CEU][hapmap]
rs2548532	0.87[CEU][hapmap]
rs2548533	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2548536	0.82[CEU][hapmap]
rs2548537	0.88[CEU][hapmap]
rs2548538	0.84[CEU][hapmap]
rs2548539	0.84[CEU][hapmap]
rs2548540	0.85[CEU][hapmap]
rs2549781	0.85[CEU][hapmap]
rs2549782	0.85[CEU][hapmap];0.82[CHD][hapmap]
rs2549783	0.92[CEU][hapmap]
rs2549784	0.92[CEU][hapmap]
rs2549785	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2549790	0.83[CEU][hapmap]
rs2549791	0.84[CEU][hapmap]
rs2549794	0.92[CEU][hapmap]
rs2549795	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2549796	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2549797	0.85[CEU][hapmap];0.84[CHD][hapmap]
rs2617447	0.91[CEU][hapmap]
rs27290	0.81[CEU][hapmap]
rs27292	0.91[EUR][1000 genomes]
rs27294	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs27296	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs27299	0.89[EUR][1000 genomes]
rs27300	0.81[CEU][hapmap]
rs27305	0.90[EUR][1000 genomes]
rs27306	0.92[CEU][hapmap]
rs27307	0.92[CEU][hapmap]
rs27397	0.88[CEU][hapmap];0.84[CHD][hapmap];0.90[EUR][1000 genomes]
rs27436	0.88[CEU][hapmap]
rs27613	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs27621	0.89[EUR][1000 genomes]
rs27659	0.80[CEU][hapmap]
rs27711	0.92[CEU][hapmap]
rs27712	0.92[CEU][hapmap]
rs27747	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs27993	0.92[CEU][hapmap]
rs2910787	0.88[CEU][hapmap]
rs2927609	0.92[CEU][hapmap]
rs31398	0.87[EUR][1000 genomes]
rs3734015	0.96[CEU][hapmap]
rs3797796	0.88[CEU][hapmap]
rs38030	0.87[EUR][1000 genomes]
rs38032	0.88[CEU][hapmap]
rs38033	0.81[CEU][hapmap]
rs38035	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs38036	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs38037	0.82[EUR][1000 genomes]
rs38040	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs38041	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs38042	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs38043	0.81[CEU][hapmap]
rs3849749	0.92[CEU][hapmap]
rs3849750	0.85[CEU][hapmap]
rs3909451	0.81[CEU][hapmap]
rs39602	0.81[CEU][hapmap]
rs42983	0.86[EUR][1000 genomes]
rs4869314	0.96[CEU][hapmap]
rs6556942	0.88[CEU][hapmap]
rs6871162	0.81[CEU][hapmap]
rs6879678	0.82[EUR][1000 genomes]
rs7700332	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7713127	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7716222	0.81[CEU][hapmap]
rs7719705	0.92[CEU][hapmap]
rs7722694	0.84[EUR][1000 genomes]
rs7731592	0.80[CEU][hapmap]
rs7736466	0.88[CEU][hapmap];0.84[CHD][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs9127	ERAP2	cis	Artery Tibial	GTEx
rs9127	ERAP2	cis	Esophagus Mucosa	GTEx
rs9127	AC008865.1	cis	Artery Tibial	GTEx
rs9127	LRAP	cis	uninvolved skin	skin_eQTL
rs9127	ERAP2	cis	Stomach	GTEx
rs9127	LRAP	cis	normal skin	skin_eQTL
rs9127	ERAP2	cis	Muscle Skeletal	GTEx
rs9127	ERAP2	cis	lung	GTEx
rs9127	ERAP2	cis	Thyroid	GTEx
rs9127	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs9127	ERAP2	cis	Nerve Tibial	GTEx
rs9127	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs9127	LRAP	cis	lesional skin	skin_eQTL
rs9127	ERAP2	cis	Esophagus Muscularis	GTEx
rs9127	ERAP2	cis	Whole Blood	GTEx
rs9127	ERAP2	cis	Heart Left Ventricle	GTEx
rs9127	ERAP2	cis	Adipose Subcutaneous	GTEx
rs9127	ERAP2	cis	Artery Aorta	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
4	chr5:96342600-96374400	Weak transcription	HepG2	liver
5	chr5:96346600-96372600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:96347000-96373600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:96348400-96372400	Strong transcription	Fetal Thymus	thymus
8	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:96352200-96372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:96355800-96372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:96357800-96373800	Strong transcription	Adipose Nuclei	Adipose
13	chr5:96358000-96372800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:96358000-96373000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:96358200-96372400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr5:96358200-96372400	Strong transcription	Dnd41	blood
17	chr5:96358800-96372400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:96358800-96374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:96359000-96373400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:96359000-96373600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:96359200-96372400	Strong transcription	Primary B cells from cord blood	blood
22	chr5:96359200-96373800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:96360600-96378600	Weak transcription	Gastric	stomach
24	chr5:96360800-96374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:96360800-96379400	Weak transcription	Psoas Muscle	Psoas
26	chr5:96361000-96374600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:96361000-96378000	Weak transcription	Aorta	Aorta
28	chr5:96361800-96378800	Weak transcription	Fetal Heart	heart
29	chr5:96363400-96378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:96364400-96374400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:96364600-96373400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:96364600-96373600	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:96364600-96374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:96364600-96383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96364800-96373200	Weak transcription	Brain Anterior Caudate	brain
36	chr5:96364800-96373400	Weak transcription	Spleen	Spleen
37	chr5:96364800-96373600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:96364800-96374600	Weak transcription	Fetal Intestine Small	intestine
39	chr5:96364800-96374800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:96364800-96375000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:96364800-96375400	Weak transcription	Esophagus	oesophagus
42	chr5:96364800-96375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:96364800-96375600	Weak transcription	NHEK	skin
44	chr5:96364800-96377600	Weak transcription	Fetal Kidney	kidney
45	chr5:96364800-96377800	Weak transcription	Fetal Lung	lung
46	chr5:96364800-96378000	Weak transcription	Pancreas	Pancrea
47	chr5:96364800-96378600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:96364800-96379400	Weak transcription	HUVEC	blood vessel
49	chr5:96364800-96379800	Weak transcription	Lung	lung
50	chr5:96364800-96380000	Weak transcription	Right Ventricle	heart

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