Variant report

Variant	rs17087114
Chromosome Location	chr5:96211730-96211731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:96211516-96211994	T-47D	breast:	n/a	chr5:96211669-96211680 chr5:96211656-96211668
2	BRCA1	chr5:96211506-96212600	Hela-S3	cervix:	n/a	n/a
3	TBL1XR1	chr5:96211500-96212582	K562	blood:	n/a	n/a
4	SPI1	chr5:96211429-96211871	HL-60	blood:	n/a	chr5:96211629-96211636 chr5:96211626-96211639
5	EP300	chr5:96211622-96212628	K562	blood:	n/a	chr5:96212169-96212183
6	SPI1	chr5:96211462-96211772	GM12878	blood:	n/a	chr5:96211629-96211636 chr5:96211626-96211639
7	JUN	chr5:96211386-96212684	K562	blood:	n/a	n/a
8	TBP	chr5:96211611-96212495	GM12878	blood:	n/a	n/a
9	SPI1	chr5:96211481-96211828	GM12891	blood:	n/a	chr5:96211629-96211636 chr5:96211626-96211639
10	ATF2	chr5:96211638-96212500	GM12878	blood:	n/a	n/a
11	GATA3	chr5:96211583-96211832	MCF-7	breast:	n/a	chr5:96211669-96211680 chr5:96211656-96211668
12	MTA3	chr5:96211421-96212693	GM12878	blood:	n/a	n/a
13	IRF1	chr5:96211606-96212624	K562	blood:	n/a	chr5:96212173-96212190 chr5:96212168-96212182 chr5:96212170-96212184 chr5:96212176-96212190 chr5:96212166-96212186 chr5:96212174-96212184 chr5:96212171-96212185 chr5:96212179-96212196 chr5:96212168-96212189 chr5:96212174-96212185 chr5:96212172-96212192 chr5:96212172-96212185 chr5:96212172-96212185 chr5:96212174-96212188 chr5:96212172-96212185 chr5:96212175-96212186 chr5:96212169-96212180
14	POLR2A	chr5:96211442-96212378	GM12892	blood:	n/a	n/a
15	ARID3A	chr5:96211609-96212658	K562	blood:	n/a	n/a
16	MYC	chr5:96211566-96212574	NB4	blood:	n/a	n/a
17	GATA2	chr5:96211457-96212569	HUVEC	blood vessel:	n/a	chr5:96211669-96211680 chr5:96211656-96211668 chr5:96212008-96212016 chr5:96211756-96211770
18	RCOR1	chr5:96211358-96212562	K562	blood:	n/a	n/a
19	WRNIP1	chr5:96211449-96212430	GM12878	blood:	n/a	n/a
20	HDAC2	chr5:96211452-96211849	HepG2	liver:	n/a	n/a
21	BHLHE40	chr5:96211603-96211980	HepG2	liver:	n/a	n/a
22	RCOR1	chr5:96211452-96212471	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr5:96211305-96211896	PANC-1	pancreas:	n/a	chr5:96211669-96211678 chr5:96211666-96211680 chr5:96211666-96211682 chr5:96211666-96211682 chr5:96211667-96211681
24	FOXA2	chr5:96211542-96211974	HepG2	liver:	n/a	n/a
25	SPI1	chr5:96211427-96211739	GM12891	blood:	n/a	chr5:96211629-96211636 chr5:96211626-96211639
26	SMC3	chr5:96211622-96212126	HepG2	liver:	n/a	n/a
27	SPI1	chr5:96211489-96211752	K562	blood:	n/a	chr5:96211629-96211636 chr5:96211626-96211639
28	CHD2	chr5:96211455-96212302	GM12878	blood:	n/a	n/a
29	JUND	chr5:96211595-96212526	K562	blood:	n/a	n/a
30	CEBPB	chr5:96211632-96211915	Hela-S3	cervix:	n/a	chr5:96211789-96211801
31	RCOR1	chr5:96211588-96212313	GM12878	blood:	n/a	n/a
32	TBP	chr5:96211445-96212487	HepG2	liver:	n/a	n/a
33	ZNF217	chr5:96211624-96211895	MCF-7	breast:	n/a	n/a
34	GATA3	chr5:96211567-96212118	MCF-7	breast:	n/a	chr5:96211669-96211680 chr5:96211656-96211668 chr5:96212008-96212016
35	TEAD4	chr5:96211545-96212494	K562	blood:	n/a	n/a
36	GATA3	chr5:96211510-96212043	T-47D	breast:	n/a	chr5:96211669-96211680 chr5:96211656-96211668 chr5:96212008-96212016
37	MAX	chr5:96211566-96212571	NB4	blood:	n/a	n/a
38	POLR2A	chr5:96211545-96212555	HepG2	liver:	n/a	n/a
39	GTF2F1	chr5:96211510-96212463	Hela-S3	cervix:	n/a	n/a
40	ZNF143	chr5:96211488-96212089	K562	blood:	n/a	n/a
41	TBP	chr5:96211556-96212583	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:96211699-96211737	GM12878	blood:	n/a	n/a
43	CHD1	chr5:96211528-96212156	GM12878	blood:	n/a	n/a
44	MYC	chr5:96211534-96212654	K562	blood:	n/a	n/a
45	ARID3A	chr5:96211530-96212117	HepG2	liver:	n/a	n/a
46	MAX	chr5:96211568-96212553	K562	blood:	n/a	n/a
47	POLR2A	chr5:96211547-96212787	HUVEC	blood vessel:	n/a	n/a
48	USF2	chr5:96211660-96211998	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr5:96211475-96212082	Hela-S3	cervix:	n/a	chr5:96211669-96211678 chr5:96211666-96211680 chr5:96211666-96211682 chr5:96211666-96211682 chr5:96211667-96211681
50	POLR2A	chr5:96211472-96212561	Raji	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:96211703-96211753	BE2_C	brain:	n/a
2	chr5:96211703-96211753	T-47D	breast:	n/a
3	chr5:96211703-96211753	PrEC	prostate:	n/a
4	chr5:96211703-96211753	SK-N-MC	brain:	n/a
5	chr5:96211703-96211753	NT2-D1	testis:	n/a
6	chr5:96211703-96211753	GM19239	blood:	n/a
7	chr5:96211703-96211753	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:96211703-96211753	GM06990	blood:	n/a
9	chr5:96211703-96211753	HCM	heart:	n/a
10	chr5:96211703-96211753	HNPCEpiC	eye:	n/a
11	chr5:96211703-96211753	AG09319	gingival:	n/a
12	chr5:96211703-96211753	AoSMC	blood vessel:	n/a
13	chr5:96211703-96211753	Hela-S3	cervix:	n/a
14	chr5:96211703-96211753	ovcar-3	ovarian:	n/a
15	chr5:96211703-96211753	AG04450	lung:	fetal
16	chr5:96211703-96211753	MCF-7	breast:	n/a
17	chr5:96211703-96211753	NHBE	bronchial:	n/a
18	chr5:96211703-96211753	HRCEpiC	kidney:	n/a
19	chr5:96211703-96211753	LNCaP	prostate:	n/a
20	chr5:96211703-96211753	HIPEpiC	eye:	n/a
21	chr5:96211703-96211753	HRPEpiC	eye:	n/a
22	chr5:96211703-96211753	ECC-1	luminal epithelium:	n/a
23	chr5:96211703-96211753	HAEpiC	amniotic membrane:	n/a
24	chr5:96211703-96211753	CMK	blood:	n/a
25	chr5:96211703-96211753	HCF	heart:	n/a
26	chr5:96211703-96211753	GM12891	blood:	n/a
27	chr5:96211703-96211753	Hepatocyte	liver:	n/a
28	chr5:96211703-96211753	A549	lung:	n/a
29	chr5:96211703-96211753	Caco-2	colon:	n/a
30	chr5:96211703-96211753	BJ	skin:	n/a
31	chr5:96211703-96211753	HL-60	blood:	n/a
32	chr5:96211703-96211753	MCF10A-Er-Src	breast:	n/a
33	chr5:96211703-96211753	AG09309	skin:	n/a
34	chr5:96211703-96211753	HCT-116	colon:	n/a
35	chr5:96211703-96211753	RPTEC	kidney:	n/a
36	chr5:96211703-96211753	K562	blood:	n/a
37	chr5:96211703-96211753	HMEC	breast:	n/a
38	chr5:96211703-96211753	AG10803	skin:	n/a
39	chr5:96211703-96211753	PFSK-1	brain:	n/a
40	chr5:96211703-96211753	SKMC	muscle:	n/a
41	chr5:96211703-96211753	NB4	blood:	n/a
42	chr5:96211703-96211753	U87	brain:	n/a
43	chr5:96211703-96211753	ProgFib	skin:	n/a
44	chr5:96211703-96211753	AG04449	skin:	fetal
45	chr5:96211703-96211753	SAEC	small airway:	n/a
46	chr5:96211703-96211753	HepG2	liver:	n/a
47	chr5:96211703-96211753	HEK293	kidney:	embryo
48	chr5:96211703-96211753	GM12878	blood:	n/a
49	chr5:96211703-96211753	Jurkat	blood:	n/a
50	chr5:96211703-96211753	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
2	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
3	chr5:96210113..96212141-chr5:96215069..96217476,2	K562	blood:
4	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000247121	TF binding region
ENSG00000247121	CpG island
ERAP2	CpG island
ENSG00000113441	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10491387	1.00[JPT][hapmap]
rs10515251	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10515252	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17082231	0.96[EUR][1000 genomes]
rs17082244	1.00[JPT][hapmap]
rs17087080	1.00[ASN][1000 genomes]
rs17087082	1.00[ASN][1000 genomes]
rs17087083	0.96[EUR][1000 genomes]
rs17087085	1.00[ASN][1000 genomes]
rs17087092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17087104	0.96[EUR][1000 genomes]
rs17087112	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17087117	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087119	0.96[EUR][1000 genomes]
rs17087122	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087272	1.00[JPT][hapmap]
rs17087279	1.00[JPT][hapmap]
rs55758036	1.00[ASN][1000 genomes]
rs56035075	1.00[ASN][1000 genomes]
rs56058457	1.00[ASN][1000 genomes]
rs6861666	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6866020	1.00[ASN][1000 genomes]
rs6873990	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7736145	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96207400-96211800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:96207600-96212000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:96209600-96211800	Enhancers	Fetal Intestine Large	intestine
4	chr5:96210200-96212400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:96211000-96213400	Active TSS	Right Atrium	heart
6	chr5:96211200-96211800	Enhancers	Small Intestine	intestine
7	chr5:96211200-96212000	Flanking Active TSS	GM12878-XiMat	blood
8	chr5:96211200-96212200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:96211200-96212600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:96211200-96213000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:96211400-96211800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:96211400-96211800	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr5:96211400-96211800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr5:96211400-96211800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr5:96211400-96211800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:96211400-96211800	Enhancers	Esophagus	oesophagus
17	chr5:96211400-96211800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr5:96211400-96211800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr5:96211400-96211800	Flanking Active TSS	Hela-S3	cervix
20	chr5:96211400-96211800	Flanking Active TSS	HepG2	liver
21	chr5:96211400-96211800	Flanking Active TSS	NHDF-Ad	bronchial
22	chr5:96211400-96211800	Flanking Active TSS	NHLF	lung
23	chr5:96211400-96212000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:96211400-96212000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr5:96211400-96212000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr5:96211400-96212000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:96211400-96212000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr5:96211400-96212000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:96211400-96212000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:96211400-96212000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr5:96211400-96212000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:96211400-96212000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:96211400-96212000	Flanking Active TSS	Liver	Liver
34	chr5:96211400-96212000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr5:96211400-96212000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr5:96211400-96212000	Flanking Active TSS	Thymus	Thymus
37	chr5:96211400-96212000	Flanking Active TSS	Dnd41	blood
38	chr5:96211400-96212000	Flanking Active TSS	HUVEC	blood vessel
39	chr5:96211400-96212000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:96211400-96212000	Flanking Active TSS	NHEK	skin
41	chr5:96211400-96212000	Flanking Active TSS	Osteobl	bone
42	chr5:96211400-96212200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:96211400-96212200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:96211400-96212200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:96211400-96212200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:96211400-96212200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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