Variant report

Variant	rs3797796
Chromosome Location	chr5:96316758-96316759
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	chr5:96311603..96314325-chr5:96315419..96317692,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10038651	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044354	0.92[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051637	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10058476	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10061936	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10069361	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10071975	0.82[EUR][1000 genomes]
rs10076136	0.83[EUR][1000 genomes]
rs10077945	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10434709	0.81[CEU][hapmap]
rs1046395	0.87[EUR][1000 genomes]
rs1046396	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476696	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135484	0.81[CEU][hapmap]
rs1216566	0.84[EUR][1000 genomes]
rs1216567	0.84[EUR][1000 genomes]
rs1216568	0.90[ASN][1000 genomes]
rs1216571	0.84[EUR][1000 genomes]
rs12516666	0.82[CEU][hapmap]
rs12716486	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13167902	0.81[CEU][hapmap]
rs13170029	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13358339	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363907	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1363908	0.83[EUR][1000 genomes]
rs1363974	0.92[CEU][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1363976	0.81[EUR][1000 genomes]
rs1423357	0.93[CEU][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423566	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1477364	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs1544777	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1559267	0.83[EUR][1000 genomes]
rs1559355	0.82[CEU][hapmap]
rs18059	0.90[ASN][1000 genomes]
rs1820148	0.83[EUR][1000 genomes]
rs1820149	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs193994	0.91[ASN][1000 genomes]
rs1974871	0.84[CEU][hapmap]
rs2112974	0.83[EUR][1000 genomes]
rs2113050	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2161548	0.92[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278018	0.82[CEU][hapmap]
rs2278019	0.81[CEU][hapmap]
rs2351010	0.92[CEU][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351011	0.83[EUR][1000 genomes]
rs2432141	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432142	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs251339	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs251340	0.83[EUR][1000 genomes]
rs251341	0.82[EUR][1000 genomes]
rs2548224	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2548516	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548529	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2548530	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs2548532	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2548537	0.82[CEU][hapmap]
rs2549783	0.96[CEU][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs2549784	0.81[CEU][hapmap];0.91[YRI][hapmap]
rs2549794	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs2617435	0.87[ASN][1000 genomes]
rs2617439	0.85[EUR][1000 genomes]
rs2617447	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes]
rs27289	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27290	0.92[CEU][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27293	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27294	0.87[ASN][1000 genomes]
rs27295	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27296	0.86[ASN][1000 genomes]
rs27298	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27299	0.86[ASN][1000 genomes]
rs27300	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27302	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27306	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs27307	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes]
rs27436	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27613	0.91[ASN][1000 genomes]
rs2762	0.84[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27621	0.86[ASN][1000 genomes]
rs27659	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27660	0.86[EUR][1000 genomes]
rs27711	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs27712	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs27993	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs27998	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2859491	0.83[EUR][1000 genomes]
rs2910686	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs2910687	0.84[EUR][1000 genomes]
rs2910787	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2910788	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2910789	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2910793	0.83[EUR][1000 genomes]
rs2927608	0.85[EUR][1000 genomes]
rs2927609	0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs31398	0.89[ASN][1000 genomes]
rs3734015	0.82[CEU][hapmap]
rs38029	0.86[EUR][1000 genomes]
rs38030	0.88[ASN][1000 genomes]
rs38031	0.86[EUR][1000 genomes]
rs38032	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs38033	0.92[CEU][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38034	0.88[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs38035	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs38036	0.82[EUR][1000 genomes]
rs38038	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs38039	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38040	0.94[ASN][1000 genomes]
rs38042	0.86[CEU][hapmap]
rs38043	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38044	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3849749	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs3909451	0.92[CEU][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39602	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs42983	0.86[ASN][1000 genomes]
rs4360063	0.92[CEU][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869314	0.82[CEU][hapmap]
rs6556942	0.92[CEU][hapmap];0.80[YRI][hapmap]
rs6859168	0.81[EUR][1000 genomes]
rs6870825	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6871162	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6879678	0.82[EUR][1000 genomes]
rs6887500	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716848	0.84[EUR][1000 genomes]
rs7700332	0.83[EUR][1000 genomes]
rs7703341	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705093	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7716222	0.92[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719705	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.87[EUR][1000 genomes]
rs7722694	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7726445	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7731592	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7733312	0.87[EUR][1000 genomes]
rs9127	0.88[CEU][hapmap]
rs9314181	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:18)

SNP	Gene	Cis/trans	Tissue	Source
rs3797796	AC008865.1	cis	Artery Tibial	GTEx
rs3797796	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs3797796	LRAP	cis	normal skin	skin_eQTL
rs3797796	ERAP2	cis	Stomach	GTEx
rs3797796	LRAP	cis	lesional skin	skin_eQTL
rs3797796	ERAP2	cis	Artery Aorta	GTEx
rs3797796	ERAP2	cis	Thyroid	GTEx
rs3797796	ERAP2	cis	Esophagus Mucosa	GTEx
rs3797796	ERAP2	cis	Nerve Tibial	GTEx
rs3797796	ERAP2	cis	Artery Tibial	GTEx
rs3797796	LRAP	cis	uninvolved skin	skin_eQTL
rs3797796	ERAP2	cis	Esophagus Muscularis	GTEx
rs3797796	ERAP2	cis	lung	GTEx
rs3797796	ERAP2	cis	Heart Left Ventricle	GTEx
rs3797796	ERAP2	cis	Whole Blood	GTEx
rs3797796	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs3797796	ERAP2	cis	Adipose Subcutaneous	GTEx
rs3797796	ERAP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:114 , 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	chr5:96313400-96317400	Weak transcription	Fetal Heart	heart
9	chr5:96313400-96317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:96313600-96317800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:96314000-96318000	Strong transcription	Primary T cells from cord blood	blood
14	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
15	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
17	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
18	chr5:96314400-96318000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:96314400-96318000	Strong transcription	Fetal Intestine Large	intestine
20	chr5:96314400-96319200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:96314400-96319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:96314400-96343800	Strong transcription	Dnd41	blood
23	chr5:96314600-96318200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:96314600-96319000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:96314800-96316800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:96314800-96317400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:96314800-96317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:96314800-96317800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:96314800-96318200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:96314800-96319800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr5:96315000-96317800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:96315000-96318000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:96315000-96318000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:96315000-96318000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:96315000-96318200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:96315000-96318400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
40	chr5:96315200-96316800	Strong transcription	Osteobl	bone
41	chr5:96315400-96320800	Weak transcription	Small Intestine	intestine
42	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:96315600-96316800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:96315600-96317200	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:96315600-96317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:96315600-96317400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:96315600-96317600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:96315600-96318400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:96315600-96319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:96315600-96320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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