Variant report

Variant	rs17557153
Chromosome Location	chr17:38636825-38636826
allele	A/C
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	NR3C1	chr17:38636277-38637351	A549	lung:	n/a	chr17:38636485-38636493
2	BCL3	chr17:38635706-38637466	A549	lung:	n/a	chr17:38635912-38635921
3	MYC	chr17:38636824-38637112	HepG2	liver:	n/a	chr17:38636841-38636848 chr17:38636839-38636849
4	MAX	chr17:38636670-38637258	GM12878	blood:	n/a	chr17:38636841-38636848 chr17:38636839-38636849
5	MAX	chr17:38636500-38637029	A549	lung:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
6	EP300	chr17:38635770-38637263	A549	lung:	n/a	n/a
7	MYC	chr17:38636437-38636947	NB4	blood:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
8	MYC	chr17:38636573-38637016	MCF10A-Er-Src	breast:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
9	SIX5	chr17:38635884-38637649	A549	lung:	n/a	chr17:38636594-38636610 chr17:38636594-38636610
10	MXI1	chr17:38636527-38636885	GM12878	blood:	n/a	n/a
11	MAX	chr17:38636557-38636948	K562	blood:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
12	SREBP1	chr17:38636707-38637616	GM12878	blood:	n/a	n/a
13	EP300	chr17:38636790-38637600	HepG2	liver:	n/a	n/a
14	BHLHE40	chr17:38636543-38637223	GM12878	blood:	n/a	n/a
15	ELF1	chr17:38636732-38637317	A549	lung:	n/a	chr17:38637134-38637147
16	POLR2A	chr17:38636732-38637032	A549	lung:	n/a	n/a
17	FOSL2	chr17:38636548-38637626	A549	lung:	n/a	chr17:38636551-38636562 chr17:38637144-38637154 chr17:38637145-38637153 chr17:38636788-38636797
18	POLR2A	chr17:38636246-38637685	Hela-S3	cervix:	n/a	n/a
19	NR3C1	chr17:38636590-38637006	A549	lung:	n/a	n/a
20	NR3C1	chr17:38636465-38637085	A549	lung:	n/a	chr17:38636485-38636493
21	SP1	chr17:38636092-38637632	A549	lung:	n/a	chr17:38636723-38636735 chr17:38636717-38636727 chr17:38636725-38636734 chr17:38636736-38636745 chr17:38636724-38636738 chr17:38636724-38636734 chr17:38636717-38636727 chr17:38636321-38636334 chr17:38636723-38636735 chr17:38636331-38636340 chr17:38637117-38637131
22	POLR2A	chr17:38636601-38637058	A549	lung:	n/a	n/a
23	TCF12	chr17:38636576-38637075	A549	lung:	n/a	chr17:38636751-38636761
24	BHLHE40	chr17:38636456-38637019	A549	lung:	n/a	n/a
25	TCF12	chr17:38635594-38637645	A549	lung:	n/a	chr17:38636751-38636761 chr17:38637155-38637162
26	SIN3AK20	chr17:38636766-38637116	A549	lung:	n/a	n/a
27	JUND	chr17:38635961-38637602	A549	lung:	n/a	chr17:38636551-38636562 chr17:38637144-38637154 chr17:38637145-38637153 chr17:38636788-38636797
28	CREB1	chr17:38636576-38637154	A549	lung:	n/a	n/a
29	MAX	chr17:38635618-38637736	A549	lung:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
30	MAX	chr17:38636482-38637023	NB4	blood:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
31	STAT3	chr17:38636813-38637312	MCF10A-Er-Src	breast:	n/a	chr17:38637238-38637250
32	MAX	chr17:38636273-38637607	A549	lung:	n/a	chr17:38636665-38636680 chr17:38636669-38636679 chr17:38636841-38636848 chr17:38636668-38636679 chr17:38636839-38636849
33	POLR2A	chr17:38636203-38637624	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr17:38636683-38637748	A549	lung:	n/a	chr17:38637171-38637182
35	POLR2A	chr17:38636733-38637192	A549	lung:	n/a	n/a
36	RUNX3	chr17:38636741-38637222	GM12878	blood:	n/a	n/a
37	EP300	chr17:38636366-38637313	A549	lung:	n/a	n/a
38	MYC	chr17:38636720-38637233	MCF10A-Er-Src	breast:	n/a	chr17:38636841-38636848 chr17:38636839-38636849
39	POLR2A	chr17:38636065-38637578	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr17:38636712-38637062	GM12878	blood:	n/a	chr17:38636902-38636913
41	POLR2A	chr17:38612066-38637636	A549	lung:	n/a	n/a
42	POLR2A	chr17:38636810-38636887	MCF-7	breast:	n/a	n/a
43	POLR2A	chr17:38635615-38637575	Hela-S3	cervix:	n/a	n/a
44	EBF1	chr17:38636780-38637009	GM12878	blood:	n/a	chr17:38636902-38636913
45	WRNIP1	chr17:38636769-38636935	GM12878	blood:	n/a	n/a
46	REST	chr17:38636292-38637668	A549	lung:	n/a	n/a
47	POLR2A	chr17:38636679-38637140	HL-60	blood:	n/a	n/a
48	ATF3	chr17:38636668-38637629	A549	lung:	n/a	n/a
49	ELF1	chr17:38636673-38637353	GM12878	blood:	n/a	chr17:38637134-38637147
50	POLR2A	chr17:38635791-38637456	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38636036..38638375-chr17:38656645..38659245,2	MCF-7	breast:

Variant related genes	Relation type
TNS4	TF binding region
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11078948	0.90[ASN][1000 genomes]
rs11652694	0.92[ASN][1000 genomes]
rs1666263	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2122614	0.96[ASN][1000 genomes]
rs475087	0.93[ASN][1000 genomes]
rs56308624	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs627857	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7211995	0.91[ASN][1000 genomes]
rs7224214	0.82[ASN][1000 genomes]
rs8079359	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs9303288	0.93[ASN][1000 genomes]
rs9893209	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:38632000-38637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr17:38632000-38637000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:38632400-38637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:38632800-38637200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38632800-38641000	Weak transcription	Osteobl	bone
11	chr17:38633000-38637000	Weak transcription	K562	blood
12	chr17:38633000-38641000	Weak transcription	NHLF	lung
13	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
14	chr17:38634000-38639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:38634200-38639800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:38634400-38638200	Enhancers	Primary T cells from cord blood	blood
17	chr17:38634800-38637400	Enhancers	Spleen	Spleen
18	chr17:38635200-38637000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr17:38635200-38638600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:38635600-38637600	Enhancers	Fetal Thymus	thymus
21	chr17:38635600-38638200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr17:38635600-38639400	Enhancers	Primary B cells from cord blood	blood
23	chr17:38635800-38637400	Enhancers	Primary hematopoietic stem cells	blood
24	chr17:38635800-38637400	Genic enhancers	Esophagus	oesophagus
25	chr17:38635800-38637400	Genic enhancers	Placenta	Placenta
26	chr17:38635800-38637600	Enhancers	Thymus	Thymus
27	chr17:38635800-38637600	Enhancers	Dnd41	blood
28	chr17:38635800-38638600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:38635800-38638800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr17:38635800-38638800	Enhancers	HepG2	liver
31	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:38636000-38637000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:38636000-38637000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr17:38636000-38637600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:38636000-38637600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:38636000-38637600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:38636000-38637600	Enhancers	Lung	lung
38	chr17:38636000-38637600	Enhancers	GM12878-XiMat	blood
39	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:38636000-38649600	Genic enhancers	HMEC	breast
42	chr17:38636200-38637200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr17:38636200-38637200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr17:38636200-38637200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr17:38636200-38637200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr17:38636200-38637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:38636200-38637400	Enhancers	Fetal Brain Female	brain
48	chr17:38636200-38637400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:38636200-38637400	Enhancers	HSMM	muscle
50	chr17:38636200-38638200	Enhancers	Duodenum Mucosa	Duodenum

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