Variant report

Variant	rs27302
Chromosome Location	chr5:96373750-96373751
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:
2	chr5:96347498..96349401-chr5:96373632..96375200,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 32 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10038651	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10044354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10051637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10058476	0.88[CEU][hapmap]
rs10061936	0.80[ASN][1000 genomes]
rs10069361	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10071975	0.85[CEU][hapmap]
rs10077945	0.80[ASN][1000 genomes]
rs1046396	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10476696	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1056893	0.82[CEU][hapmap]
rs1216565	0.81[CEU][hapmap]
rs1230358	0.85[MEX][hapmap]
rs12716486	0.85[CEU][hapmap]
rs13170029	0.80[ASN][1000 genomes]
rs13358339	0.82[EUR][1000 genomes]
rs1363907	0.85[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap]
rs1363974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1423357	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1423566	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1477364	0.89[CEU][hapmap]
rs1544777	0.89[CEU][hapmap]
rs18059	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs187265	0.82[CEU][hapmap]
rs2042385	0.82[CEU][hapmap]
rs2113189	0.83[CEU][hapmap]
rs2161548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2161657	0.82[CEU][hapmap]
rs2161658	0.82[CEU][hapmap]
rs2255546	0.82[CEU][hapmap]
rs2255633	0.82[CEU][hapmap]
rs2255634	0.82[CEU][hapmap]
rs2255637	0.82[CEU][hapmap]
rs2287988	0.82[CEU][hapmap]
rs2351010	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2432141	0.80[ASN][1000 genomes]
rs248215	0.85[CEU][hapmap]
rs251344	0.82[CEU][hapmap]
rs2548516	0.80[ASN][1000 genomes]
rs2548523	0.82[CEU][hapmap]
rs2548524	0.82[CEU][hapmap]
rs2548527	0.82[CEU][hapmap]
rs2548530	0.89[CEU][hapmap]
rs2548532	0.84[CEU][hapmap]
rs2548533	0.82[CEU][hapmap]
rs2548537	0.85[CEU][hapmap]
rs2548538	0.81[CEU][hapmap]
rs2548539	0.81[CEU][hapmap]
rs2548540	0.82[CEU][hapmap]
rs2549778	0.85[MEX][hapmap]
rs2549781	0.82[CEU][hapmap]
rs2549782	0.82[CEU][hapmap]
rs2549783	0.89[CEU][hapmap]
rs2549785	0.82[CEU][hapmap]
rs2549790	0.80[CEU][hapmap]
rs2549791	0.82[CEU][hapmap]
rs2549794	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap]
rs2549795	0.82[CEU][hapmap]
rs2549796	0.82[CEU][hapmap]
rs2549797	0.82[CEU][hapmap]
rs2617442	0.85[JPT][hapmap]
rs2617447	0.88[CEU][hapmap]
rs27289	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27293	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27294	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs27295	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27296	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs27298	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27299	0.93[ASN][1000 genomes]
rs27300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27306	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs27307	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs27397	0.85[CEU][hapmap]
rs27436	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27613	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2762	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27621	0.93[ASN][1000 genomes]
rs27659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27660	0.85[EUR][1000 genomes]
rs27711	0.82[ASW][hapmap];0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs27712	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs27747	0.85[CEU][hapmap]
rs27993	0.82[ASW][hapmap];0.89[CEU][hapmap];0.83[CHD][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs27998	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910686	1.00[CEU][hapmap]
rs2910787	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2910788	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2910789	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2911134	0.90[JPT][hapmap]
rs2927609	0.88[CEU][hapmap]
rs31398	0.90[ASN][1000 genomes]
rs3797796	0.92[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs38029	0.85[EUR][1000 genomes]
rs38030	0.89[ASN][1000 genomes]
rs38031	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs38032	0.84[CEU][hapmap]
rs38033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs38034	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs38035	0.85[CEU][hapmap]
rs38036	0.85[CEU][hapmap]
rs38038	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38039	0.83[EUR][1000 genomes]
rs38040	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs38041	0.85[CEU][hapmap]
rs38043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38044	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3849749	0.89[CEU][hapmap]
rs3849750	0.82[CEU][hapmap]
rs3909451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs39602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42983	0.87[ASN][1000 genomes]
rs4360063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6556942	0.84[CEU][hapmap]
rs6870825	0.80[ASN][1000 genomes]
rs6871162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7700332	0.82[CEU][hapmap]
rs7713127	0.85[CEU][hapmap]
rs7716222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7719705	0.89[CEU][hapmap]
rs7726445	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7731592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7736466	0.85[CEU][hapmap]
rs9127	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs9314181	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:32)

SNP	Gene	Cis/trans	Tissue	Source
rs27302	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs27302	LNPEP	cis	normal skin	skin_eQTL
rs27302	ERAP2	cis	Esophagus Mucosa	GTEx
rs27302	ERAP2	cis	parietal	SCAN
rs27302	LNPEP	cis	occipital cortex	BrainEAC
rs27302	ERAP2	cis	Heart Left Ventricle	GTEx
rs27302	LNPEP	cis	cerebellar cortex	BrainEAC
rs27302	ERAP2	cis	Muscle Skeletal	GTEx
rs27302	ERAP2	cis	Adipose Subcutaneous	GTEx
rs27302	ERAP2	cis	Esophagus Muscularis	GTEx
rs27302	LNPEP	cis	parietal	SCAN
rs27302	ERAP2	cis	lymphoblastoid	seeQTL
rs27302	LNPEP	cis	hippocampus	BrainEAC
rs27302	ERAP2	cis	cerebellum	SCAN
rs27302	LNPEP	cis	brain	BrainEAC
rs27302	LNPEP	cis	inferior olivary nucleus	BrainEAC
rs27302	ERAP2	cis	Thyroid	GTEx
rs27302	LNPEP	cis	frontal cortex	BrainEAC
rs27302	LRAP	cis	lesional skin	skin_eQTL
rs27302	AC008865.1	cis	Artery Tibial	GTEx
rs27302	LRAP	cis	uninvolved skin	skin_eQTL
rs27302	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs27302	LNPEP	cis	intralobular white matter	BrainEAC
rs27302	C5orf36	cis	parietal	SCAN
rs27302	LRAP	cis	normal skin	skin_eQTL
rs27302	ERAP2	cis	lymphoblastoid	GTEx
rs27302	ERAP2	cis	Artery Tibial	GTEx
rs27302	ERAP2	cis	Stomach	GTEx
rs27302	ERAP2	cis	Whole Blood	GTEx
rs27302	ERAP2	cis	Artery Aorta	GTEx
rs27302	ERAP2	cis	Nerve Tibial	GTEx
rs27302	ERAP2	cis	lung	GTEx

Chromatin state (count:93 , 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	chr5:96342600-96374400	Weak transcription	HepG2	liver
4	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:96357800-96373800	Strong transcription	Adipose Nuclei	Adipose
7	chr5:96358800-96374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:96359200-96373800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:96360600-96378600	Weak transcription	Gastric	stomach
10	chr5:96360800-96374400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:96360800-96379400	Weak transcription	Psoas Muscle	Psoas
12	chr5:96361000-96374600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:96361000-96378000	Weak transcription	Aorta	Aorta
14	chr5:96361800-96378800	Weak transcription	Fetal Heart	heart
15	chr5:96363400-96378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:96364400-96374400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:96364600-96374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:96364600-96383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:96364800-96374600	Weak transcription	Fetal Intestine Small	intestine
20	chr5:96364800-96374800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:96364800-96375000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:96364800-96375400	Weak transcription	Esophagus	oesophagus
23	chr5:96364800-96375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:96364800-96375600	Weak transcription	NHEK	skin
25	chr5:96364800-96377600	Weak transcription	Fetal Kidney	kidney
26	chr5:96364800-96377800	Weak transcription	Fetal Lung	lung
27	chr5:96364800-96378000	Weak transcription	Pancreas	Pancrea
28	chr5:96364800-96378600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:96364800-96379400	Weak transcription	HUVEC	blood vessel
30	chr5:96364800-96379800	Weak transcription	Lung	lung
31	chr5:96364800-96380000	Weak transcription	Right Ventricle	heart
32	chr5:96364800-96382000	Weak transcription	NH-A	brain
33	chr5:96364800-96383000	Weak transcription	HMEC	breast
34	chr5:96365000-96374200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:96365000-96374600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:96365200-96374400	Weak transcription	Small Intestine	intestine
37	chr5:96365200-96374600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:96365200-96376000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:96365200-96376200	Weak transcription	NHDF-Ad	bronchial
40	chr5:96365200-96377000	Weak transcription	K562	blood
41	chr5:96365600-96376800	Weak transcription	HSMM	muscle
42	chr5:96365800-96382000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:96366000-96376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:96367600-96379200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:96367800-96374400	Weak transcription	Fetal Intestine Large	intestine
46	chr5:96368000-96373800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:96369000-96375400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:96369200-96375200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:96369400-96375800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:96369800-96381800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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