Variant report

Variant	rs27306
Chromosome Location	chr5:96334558-96334559
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96328610..96330249-chr5:96333541..96335673,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10038651	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10044354	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10051637	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs10058476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10069361	0.83[CHD][hapmap]
rs10077945	0.84[EUR][1000 genomes]
rs10434709	0.85[CEU][hapmap]
rs1046395	0.91[EUR][1000 genomes]
rs1046396	0.86[EUR][1000 genomes]
rs10476696	0.88[EUR][1000 genomes]
rs11135484	0.85[CEU][hapmap]
rs1216566	0.89[EUR][1000 genomes]
rs1216567	0.89[EUR][1000 genomes]
rs1216571	0.89[EUR][1000 genomes]
rs1230358	0.82[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs12516666	0.85[CEU][hapmap]
rs13167902	0.85[CEU][hapmap]
rs13170029	0.86[EUR][1000 genomes]
rs13358339	0.88[EUR][1000 genomes]
rs1363907	1.00[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs1363908	0.88[EUR][1000 genomes]
rs1363974	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs1363976	0.86[EUR][1000 genomes]
rs1423357	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1423566	0.86[EUR][1000 genomes]
rs1477364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1544777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559355	0.85[CEU][hapmap]
rs18059	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs1820148	0.88[EUR][1000 genomes]
rs1974871	0.82[ASW][hapmap];0.89[CEU][hapmap]
rs2161548	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247650	0.82[CEU][hapmap]
rs2278018	0.85[CEU][hapmap]
rs2278019	0.85[CEU][hapmap]
rs2351010	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs2351011	0.88[EUR][1000 genomes]
rs2432141	0.85[EUR][1000 genomes]
rs251339	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs251340	0.88[EUR][1000 genomes]
rs251341	0.87[EUR][1000 genomes]
rs2548224	0.82[EUR][1000 genomes]
rs2548226	0.84[EUR][1000 genomes]
rs2548516	0.83[EUR][1000 genomes]
rs2548527	0.88[ASW][hapmap]
rs2548529	0.89[CHB][hapmap]
rs2548530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs2548532	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2549778	0.82[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs2549783	1.00[CEU][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs2549794	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs2617438	0.82[JPT][hapmap]
rs2617439	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2617447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs27289	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27290	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27295	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27298	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs27300	0.89[CEU][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs27302	0.84[EUR][1000 genomes]
rs27307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27436	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27613	0.83[CHD][hapmap];0.80[EUR][1000 genomes]
rs2762	0.81[CEU][hapmap];0.83[CHD][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs27659	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs27660	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27711	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27993	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27998	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2859491	0.88[EUR][1000 genomes]
rs2910686	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs2910687	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2910787	0.83[CHD][hapmap]
rs2910788	0.86[EUR][1000 genomes]
rs2910789	0.86[EUR][1000 genomes]
rs2910793	0.88[EUR][1000 genomes]
rs2927609	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3734015	0.85[CEU][hapmap]
rs3797796	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs38029	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38031	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38032	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38033	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs38034	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs38038	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs38040	0.83[CHD][hapmap];0.80[EUR][1000 genomes]
rs38042	0.82[CEU][hapmap]
rs38043	0.89[CEU][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs38044	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3849749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs3909451	0.89[CEU][hapmap];0.81[CHD][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs39602	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs42983	0.80[EUR][1000 genomes]
rs4360063	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4869314	0.85[CEU][hapmap]
rs6556942	0.96[CEU][hapmap];0.94[JPT][hapmap]
rs6859168	0.86[EUR][1000 genomes]
rs6871162	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs6887500	0.86[EUR][1000 genomes]
rs716848	0.89[EUR][1000 genomes]
rs7703341	0.86[EUR][1000 genomes]
rs7716222	0.89[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs7719705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7726445	0.86[EUR][1000 genomes]
rs7731592	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7733312	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9127	0.92[CEU][hapmap]
rs9314181	0.81[AMR][1000 genomes];0.88[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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs27306	ERAP2	cis	Heart Left Ventricle	GTEx
rs27306	LRAP	cis	uninvolved skin	skin_eQTL
rs27306	ERAP2	cis	cerebellum	SCAN
rs27306	C5orf36	cis	parietal	SCAN
rs27306	ERAP2	cis	lymphoblastoid	seeQTL
rs27306	ERAP2	cis	lung	GTEx
rs27306	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs27306	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs27306	LRAP	cis	normal skin	skin_eQTL
rs27306	ERAP2	cis	Thyroid	GTEx
rs27306	AC008865.1	cis	Artery Tibial	GTEx
rs27306	ERAP2	cis	Esophagus Muscularis	GTEx
rs27306	ERAP2	cis	Muscle Skeletal	GTEx
rs27306	LNPEP	cis	Esophagus Muscularis	GTEx
rs27306	ERAP2	cis	parietal	SCAN
rs27306	ERAP2	cis	Artery Tibial	GTEx
rs27306	LRAP	cis	lesional skin	skin_eQTL
rs27306	ERAP2	cis	Whole Blood	GTEx
rs27306	ERAP2	cis	Adipose Subcutaneous	GTEx
rs27306	ERAP2	cis	lymphoblastoid	GTEx
rs27306	ERAP2	cis	Artery Aorta	GTEx
rs27306	ERAP2	cis	Stomach	GTEx
rs27306	ERAP2	cis	Nerve Tibial	GTEx
rs27306	LNPEP	cis	parietal	SCAN
rs27306	ERAP2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
2	chr5:96304800-96346600	Weak transcription	Lung	lung
3	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
4	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
7	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
9	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
10	chr5:96314400-96343800	Strong transcription	Dnd41	blood
11	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:96315600-96335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
16	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
17	chr5:96316000-96338400	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:96316200-96335800	Weak transcription	NHLF	lung
20	chr5:96316400-96336000	Weak transcription	Colonic Mucosa	Colon
21	chr5:96316400-96346600	Weak transcription	NH-A	brain
22	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:96321000-96335200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:96321000-96336200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:96321200-96344600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:96321600-96344800	Weak transcription	Small Intestine	intestine
27	chr5:96322200-96348600	Weak transcription	Fetal Kidney	kidney
28	chr5:96322200-96349800	Weak transcription	Psoas Muscle	Psoas
29	chr5:96322400-96336000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:96322400-96336200	Weak transcription	K562	blood
31	chr5:96322400-96353600	Weak transcription	Right Ventricle	heart
32	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:96322400-96359600	Weak transcription	Gastric	stomach
34	chr5:96323800-96342200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:96325800-96338200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:96326400-96346600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:96326800-96340200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:96327000-96339600	Weak transcription	Ovary	ovary
39	chr5:96327400-96339600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:96329800-96358800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:96330000-96335000	Weak transcription	NHEK	skin
42	chr5:96330000-96359800	Weak transcription	Aorta	Aorta
43	chr5:96330200-96340400	Weak transcription	Osteobl	bone
44	chr5:96330400-96335400	Weak transcription	HepG2	liver
45	chr5:96330400-96335600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:96330400-96335800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:96330400-96336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:96330400-96336400	Weak transcription	HSMMtube	muscle
49	chr5:96330400-96359400	Weak transcription	Fetal Brain Female	brain
50	chr5:96330600-96334600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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