Variant report

Variant	rs2617435
Chromosome Location	chr5:96273034-96273035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:96269126-96273104	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:96268968-96273188	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:96269090-96273351	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:96269401-96273113	GM12892	blood:	n/a	n/a
5	JUN	chr5:96273030-96273888	K562	blood:	n/a	chr5:96273761-96273773
6	STAT1	chr5:96272430-96273039	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:96267158-96273083	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:96272792-96273049	MCF10A-Er-Src	breast:	n/a	n/a
9	RCOR1	chr5:96269667-96273127	IMR90	lung:	n/a	n/a
10	MAZ	chr5:96269856-96273094	K562	blood:	n/a	n/a
11	POLR2A	chr5:96272821-96273141	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:96269159-96273111	GM19099	blood:	n/a	n/a
13	ARID3A	chr5:96272524-96273151	K562	blood:	n/a	n/a
14	POLR2A	chr5:96272258-96273068	GM12892	blood:	n/a	n/a
15	CTCF	chr5:96272960-96273110	HepG2	liver:	n/a	n/a
16	CTCF	chr5:96272887-96273244	GM12878	blood:	n/a	n/a
17	NFATC1	chr5:96272330-96273160	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:96269191-96273111	GM12891	blood:	n/a	n/a
19	RUNX3	chr5:96269741-96273081	GM12878	blood:	n/a	n/a
20	PML	chr5:96266960-96273172	GM12878	blood:	n/a	n/a
21	MAZ	chr5:96269497-96273102	IMR90	lung:	n/a	n/a
22	POLR2A	chr5:96272261-96273080	GM12891	blood:	n/a	n/a
23	MTA3	chr5:96272316-96273121	GM12878	blood:	n/a	n/a
24	RCOR1	chr5:96272296-96273131	K562	blood:	n/a	n/a
25	CTCF	chr5:96273034-96273091	HUVEC	blood vessel:	n/a	n/a
26	EP300	chr5:96272436-96273091	K562	blood:	n/a	n/a
27	CTCF	chr5:96272960-96273110	HMEC	breast:	n/a	n/a
28	MXI1	chr5:96269224-96273218	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr5:96269078-96273100	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:96268685-96273087	GM12891	blood:	n/a	n/a
31	CTCF	chr5:96272622-96273184	K562	blood:	n/a	n/a
32	POLR2A	chr5:96268990-96273112	GM12891	blood:	n/a	n/a
33	POLR2A	chr5:96269196-96273040	GM18951	blood:	n/a	n/a
34	MXI1	chr5:96269137-96273175	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:96268587-96273078	GM18505	blood:	n/a	n/a
36	ZNF143	chr5:96272325-96273137	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:96268807-96273159	GM12878	blood:	n/a	n/a
38	RAD21	chr5:96272144-96273200	Hela-S3	cervix:	n/a	n/a
39	IRF1	chr5:96272439-96273409	K562	blood:	n/a	n/a
40	MAX	chr5:96269926-96273102	NB4	blood:	n/a	n/a
41	HCFC1	chr5:96269811-96273276	Hela-S3	cervix:	n/a	n/a
42	RFX5	chr5:96269827-96273146	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:96268850-96273070	GM12892	blood:	n/a	n/a
44	MTA3	chr5:96268487-96273163	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96272582..96274239-chr5:96286288..96288115,2	K562	blood:
2	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
3	chr5:96270050..96274625-chr5:96293478..96297387,4	MCF-7	breast:
4	chr5:96038474..96039975-chr5:96271296..96273305,2	MCF-7	breast:
5	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
6	chr5:96270007..96273203-chr5:96295277..96299165,4	K562	blood:
7	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:
8	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
9	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
10	chr5:95992791..95994704-chr5:96271567..96273123,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LNPEP-1	chr5:96271698-96273470	NONHSAT102916

No data

Variant related genes	Relation type
ENSG00000247121	TF binding region
ENSG00000227836	TF binding region
ENSG00000272109	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000200884	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10038651	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10044354	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10051637	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10061936	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10069361	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10077945	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1046395	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1046396	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10476696	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216565	0.84[AFR][1000 genomes]
rs1216566	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1216567	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1216568	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1216569	0.83[AFR][1000 genomes]
rs1216570	0.81[AFR][1000 genomes]
rs1216571	0.81[EUR][1000 genomes]
rs13170029	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358339	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1363907	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1363908	0.80[EUR][1000 genomes]
rs1363974	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1363975	0.80[AFR][1000 genomes]
rs1363977	0.80[AFR][1000 genomes]
rs1423357	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1423566	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477364	0.83[EUR][1000 genomes]
rs1820148	0.80[EUR][1000 genomes]
rs193994	0.90[ASN][1000 genomes]
rs2161548	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255546	0.80[AFR][1000 genomes]
rs2255633	0.80[AFR][1000 genomes]
rs2255634	0.80[AFR][1000 genomes]
rs2255637	0.80[AFR][1000 genomes]
rs2351010	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2351011	0.80[EUR][1000 genomes]
rs2432141	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432142	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs251340	0.80[EUR][1000 genomes]
rs2548224	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548226	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2548516	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2548530	0.80[EUR][1000 genomes]
rs2549783	0.80[EUR][1000 genomes]
rs2549794	0.80[EUR][1000 genomes]
rs2549801	0.80[AFR][1000 genomes]
rs2617434	0.87[AFR][1000 genomes]
rs2617439	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2617447	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs27289	0.81[EUR][1000 genomes]
rs27290	0.81[EUR][1000 genomes]
rs27293	0.81[EUR][1000 genomes]
rs27295	0.81[EUR][1000 genomes]
rs27436	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2762	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs27659	0.81[EUR][1000 genomes]
rs2859491	0.80[EUR][1000 genomes]
rs2910686	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2910687	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2910688	0.81[AFR][1000 genomes]
rs2910787	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2910788	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2910789	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2910793	0.80[EUR][1000 genomes]
rs2927608	0.80[EUR][1000 genomes]
rs2927609	0.80[EUR][1000 genomes]
rs3797796	0.87[ASN][1000 genomes]
rs38033	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38034	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38038	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs38040	0.81[ASN][1000 genomes]
rs38043	0.81[EUR][1000 genomes]
rs38044	0.80[EUR][1000 genomes]
rs3849749	0.80[EUR][1000 genomes]
rs3909451	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4360063	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6870825	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6871162	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887500	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs716848	0.81[EUR][1000 genomes]
rs7703341	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7705093	0.81[ASN][1000 genomes]
rs7716222	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7719705	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7726445	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7731592	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7733312	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9314181	0.82[EUR][1000 genomes];0.87[ASN][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:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2617435	AC008865.1	cis	Artery Tibial	GTEx
rs2617435	ERAP2	cis	Esophagus Muscularis	GTEx
rs2617435	ERAP2	cis	Whole Blood	GTEx
rs2617435	ERAP2	cis	Artery Aorta	GTEx
rs2617435	ERAP2	cis	Stomach	GTEx
rs2617435	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs2617435	ERAP2	cis	Nerve Tibial	GTEx
rs2617435	ERAP2	cis	lung	GTEx
rs2617435	ERAP2	cis	Thyroid	GTEx
rs2617435	ERAP2	cis	Adipose Subcutaneous	GTEx
rs2617435	ERAP2	cis	Muscle Skeletal	GTEx
rs2617435	ERAP2	cis	Heart Left Ventricle	GTEx
rs2617435	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs2617435	ERAP2	cis	Esophagus Mucosa	GTEx
rs2617435	ERAP2	cis	Artery Tibial	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
2	chr5:96268400-96273400	Active TSS	Fetal Thymus	thymus
3	chr5:96268400-96273600	Active TSS	Thymus	Thymus
4	chr5:96269200-96273200	Active TSS	Right Atrium	heart
5	chr5:96269400-96273600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:96269600-96273800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:96269800-96273200	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:96269800-96273600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:96270000-96273200	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr5:96270200-96273200	Active TSS	Brain Substantia Nigra	brain
11	chr5:96270200-96273200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr5:96270200-96273200	Active TSS	Fetal Intestine Small	intestine
13	chr5:96270200-96273400	Active TSS	Rectal Smooth Muscle	rectum
14	chr5:96270400-96273200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:96270400-96273200	Active TSS	Fetal Kidney	kidney
16	chr5:96271200-96273200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:96271600-96273600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:96271800-96273800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:96272000-96273400	Active TSS	Brain Germinal Matrix	brain
20	chr5:96272400-96273200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:96272400-96273200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:96272400-96273200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:96272400-96273400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr5:96272400-96273600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:96272400-96273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:96272400-96273800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:96272600-96273200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr5:96272600-96273200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:96272600-96273200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr5:96272600-96273200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:96272600-96273200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr5:96272600-96273200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr5:96272600-96273200	Flanking Active TSS	HUVEC	blood vessel
34	chr5:96272600-96273200	Flanking Active TSS	NH-A	brain
35	chr5:96272600-96273200	Flanking Active TSS	NHLF	lung
36	chr5:96272600-96273400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:96272600-96273400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:96272600-96273400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr5:96272600-96273400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:96272600-96273400	Flanking Active TSS	Osteobl	bone
41	chr5:96272600-96273600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr5:96272600-96273800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:96272600-96274600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr5:96272600-96274600	Flanking Active TSS	Dnd41	blood
45	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
46	chr5:96272800-96273200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:96272800-96273200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr5:96272800-96273200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:96272800-96273200	Active TSS	Fetal Muscle Leg	muscle
50	chr5:96272800-96273200	Flanking Active TSS	A549	lung

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