Variant report

Variant	rs17087117
Chromosome Location	chr5:96212113-96212114
allele	C/T
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	PRDM1	chr5:96211894-96212406	Hela-S3	cervix:	n/a	chr5:96212179-96212193 chr5:96212173-96212186 chr5:96212172-96212187 chr5:96212173-96212187
2	BRCA1	chr5:96211506-96212600	Hela-S3	cervix:	n/a	n/a
3	TBL1XR1	chr5:96211500-96212582	K562	blood:	n/a	n/a
4	EP300	chr5:96211622-96212628	K562	blood:	n/a	chr5:96212169-96212183
5	JUN	chr5:96211386-96212684	K562	blood:	n/a	n/a
6	BRCA1	chr5:96212080-96212123	HepG2	liver:	n/a	n/a
7	TBP	chr5:96211611-96212495	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:96212003-96212298	SK-N-SH	brain:	n/a	n/a
9	ATF2	chr5:96211638-96212500	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:96211981-96212556	K562	blood:	n/a	n/a
11	MTA3	chr5:96211421-96212693	GM12878	blood:	n/a	n/a
12	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
13	POLR2A	chr5:96212023-96212328	HepG2	liver:	n/a	n/a
14	STAT5A	chr5:96211763-96212502	GM12878	blood:	n/a	chr5:96212174-96212185 chr5:96211952-96211964 chr5:96212168-96212179
15	POLR2A	chr5:96211442-96212378	GM12892	blood:	n/a	n/a
16	ARID3A	chr5:96211609-96212658	K562	blood:	n/a	n/a
17	POLR2A	chr5:96211934-96212569	HUVEC	blood vessel:	n/a	n/a
18	GTF3C2	chr5:96211794-96212606	Hela-S3	cervix:	n/a	n/a
19	EP300	chr5:96211936-96212342	GM12878	blood:	n/a	chr5:96212169-96212183
20	POLR2A	chr5:96212009-96212558	PANC-1	pancreas:	n/a	n/a
21	MYC	chr5:96211566-96212574	NB4	blood:	n/a	n/a
22	GATA2	chr5:96211457-96212569	HUVEC	blood vessel:	n/a	chr5:96211669-96211680 chr5:96211656-96211668 chr5:96212008-96212016 chr5:96211756-96211770
23	RCOR1	chr5:96211358-96212562	K562	blood:	n/a	n/a
24	WRNIP1	chr5:96211449-96212430	GM12878	blood:	n/a	n/a
25	RCOR1	chr5:96211452-96212471	Hela-S3	cervix:	n/a	n/a
26	CUX1	chr5:96211999-96212325	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:96212005-96213100	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:96212040-96212271	Hela-S3	cervix:	n/a	n/a
29	FOXM1	chr5:96211769-96212432	GM12878	blood:	n/a	n/a
30	RUNX3	chr5:96211918-96212436	GM12878	blood:	n/a	n/a
31	SMC3	chr5:96211622-96212126	HepG2	liver:	n/a	n/a
32	FOXM1	chr5:96211882-96212434	GM12878	blood:	n/a	n/a
33	TAF1	chr5:96211970-96212437	GM12878	blood:	n/a	n/a
34	CHD2	chr5:96211455-96212302	GM12878	blood:	n/a	n/a
35	JUND	chr5:96211595-96212526	K562	blood:	n/a	n/a
36	POLR2A	chr5:96211787-96212603	U87	brain:	n/a	n/a
37	RCOR1	chr5:96211588-96212313	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:96211997-96212271	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:96212109-96212401	K562	blood:	n/a	n/a
40	TBP	chr5:96211445-96212487	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:96211926-96212221	HCT-116	colon:	n/a	n/a
42	POLR2A	chr5:96211781-96212639	U87	brain:	n/a	n/a
43	TAL1	chr5:96212062-96212124	K562	blood:	n/a	n/a
44	GATA3	chr5:96211567-96212118	MCF-7	breast:	n/a	chr5:96211669-96211680 chr5:96211656-96211668 chr5:96212008-96212016
45	TEAD4	chr5:96211545-96212494	K562	blood:	n/a	n/a
46	EP300	chr5:96212050-96212563	GM12878	blood:	n/a	chr5:96212169-96212183
47	MAX	chr5:96211566-96212571	NB4	blood:	n/a	n/a
48	SMC3	chr5:96211996-96212266	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:96211545-96212555	HepG2	liver:	n/a	n/a
50	GTF2F1	chr5:96211510-96212463	Hela-S3	cervix:	n/a	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
ENSG00000247121	TF binding region
ERAP2	TF binding region
ENSG00000113441	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10515251	1.00[ASN][1000 genomes]
rs10515252	1.00[ASN][1000 genomes]
rs17082231	1.00[EUR][1000 genomes]
rs17087080	1.00[ASN][1000 genomes]
rs17087082	1.00[ASN][1000 genomes]
rs17087083	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17087085	1.00[ASN][1000 genomes]
rs17087092	1.00[ASN][1000 genomes]
rs17087104	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17087112	1.00[ASN][1000 genomes]
rs17087114	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087119	1.00[EUR][1000 genomes]
rs17087122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087129	1.00[AFR][1000 genomes]
rs17087136	1.00[AFR][1000 genomes]
rs55758036	1.00[ASN][1000 genomes]
rs56035075	1.00[ASN][1000 genomes]
rs56058457	1.00[ASN][1000 genomes]
rs6861666	1.00[ASN][1000 genomes]
rs6866020	1.00[ASN][1000 genomes]
rs6873990	1.00[ASN][1000 genomes]

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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96210200-96212400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:96211000-96213400	Active TSS	Right Atrium	heart
3	chr5:96211200-96212200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:96211200-96212600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:96211200-96213000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr5:96211400-96212200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:96211400-96212200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr5:96211400-96212200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:96211400-96212200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:96211400-96212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:96211400-96212200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr5:96211400-96212600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:96211400-96213000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:96211400-96213000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:96211400-96213000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:96211400-96213000	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:96211400-96213000	Active TSS	Colon Smooth Muscle	Colon
21	chr5:96211400-96213000	Active TSS	A549	lung
22	chr5:96211400-96213200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:96211400-96213400	Active TSS	Brain Anterior Caudate	brain
24	chr5:96211400-96213800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:96211600-96212200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr5:96211600-96212200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:96211600-96212200	Flanking Active TSS	Fetal Kidney	kidney
28	chr5:96211600-96212200	Flanking Active TSS	Fetal Thymus	thymus
29	chr5:96211600-96212200	Flanking Active TSS	NH-A	brain
30	chr5:96211600-96212400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:96211600-96212400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr5:96211600-96212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:96211600-96212600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:96211600-96213000	Active TSS	Left Ventricle	heart
35	chr5:96211600-96213000	Active TSS	Lung	lung
36	chr5:96211600-96213000	Active TSS	Pancreas	Pancrea
37	chr5:96211600-96213000	Active TSS	HSMM	muscle
38	chr5:96211600-96213200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:96211600-96213200	Active TSS	Aorta	Aorta
40	chr5:96211600-96213200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:96211600-96213200	Active TSS	Ovary	ovary
42	chr5:96211600-96213200	Active TSS	Right Ventricle	heart
43	chr5:96211600-96213400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:96211600-96213400	Active TSS	Brain Substantia Nigra	brain
45	chr5:96211600-96213400	Active TSS	Colonic Mucosa	Colon
46	chr5:96211600-96213600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:96211800-96212200	Flanking Active TSS	Fetal Brain Female	brain
48	chr5:96211800-96212400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:96211800-96212400	Active TSS	Fetal Brain Male	brain
50	chr5:96211800-96212600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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