Variant report

Variant	rs73310952
Chromosome Location	chr17:38672837-38672838
allele	A/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	POLR2A	chr17:38672837-38673641	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr17:38672718-38673637	SK-N-SH	brain:	n/a	chr17:38673259-38673266 chr17:38673260-38673277 chr17:38673134-38673141 chr17:38673238-38673248 chr17:38673259-38673266 chr17:38673167-38673177 chr17:38673259-38673266
3	RAD21	chr17:38672835-38673475	Hela-S3	cervix:	n/a	n/a
4	FOSL2	chr17:38672585-38673891	A549	lung:	n/a	chr17:38673453-38673462
5	ZNF384	chr17:38672773-38673005	K562	blood:	n/a	n/a
6	CEBPD	chr17:38672766-38673650	K562	blood:	n/a	n/a
7	TCF12	chr17:38672594-38673742	SK-N-SH	brain:	n/a	n/a
8	GTF2F1	chr17:38672796-38673555	Hela-S3	cervix:	n/a	n/a
9	TBP	chr17:38672780-38673663	Hela-S3	cervix:	n/a	n/a
10	TEAD4	chr17:38672685-38673696	K562	blood:	n/a	n/a
11	NR3C1	chr17:38672761-38673685	A549	lung:	n/a	n/a
12	TEAD4	chr17:38672834-38673454	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr17:38672721-38673288	A549	lung:	n/a	n/a
14	POLR2A	chr17:38672829-38673632	Hela-S3	cervix:	n/a	n/a
15	SP1	chr17:38672689-38673824	A549	lung:	n/a	chr17:38673517-38673531
16	NR3C1	chr17:38672762-38673685	A549	lung:	n/a	n/a
17	GABPA	chr17:38672717-38673551	A549	lung:	n/a	n/a
18	TFAP2A	chr17:38672833-38673715	Hela-S3	cervix:	n/a	chr17:38672991-38673006
19	EP300	chr17:38672728-38673550	SK-N-SH	brain:	n/a	chr17:38673240-38673249
20	JUND	chr17:38672821-38673497	K562	blood:	n/a	chr17:38673453-38673462
21	MAX	chr17:38672687-38674019	A549	lung:	n/a	n/a
22	RUNX3	chr17:38672807-38673418	GM12878	blood:	n/a	n/a
23	TEAD4	chr17:38672820-38673399	HepG2	liver:	n/a	n/a
24	SP1	chr17:38672600-38673855	A549	lung:	n/a	chr17:38673517-38673531
25	JUND	chr17:38672830-38673563	A549	lung:	n/a	chr17:38673453-38673462
26	TCF12	chr17:38672590-38674022	A549	lung:	n/a	n/a
27	FOXA2	chr17:38672778-38673764	A549	lung:	n/a	n/a
28	MTA3	chr17:38672767-38673418	GM12878	blood:	n/a	n/a
29	TCF12	chr17:38672762-38673597	SK-N-SH	brain:	n/a	n/a
30	NR2F2	chr17:38672740-38673985	K562	blood:	n/a	n/a
31	EP300	chr17:38672557-38673800	A549	lung:	n/a	chr17:38673240-38673249
32	EP300	chr17:38672591-38673818	A549	lung:	n/a	chr17:38673240-38673249
33	SMARCC1	chr17:38672837-38673835	Hela-S3	cervix:	n/a	n/a
34	FOS	chr17:38672781-38673062	MCF10A-Er-Src	breast:	n/a	n/a
35	PBX3	chr17:38672674-38673544	SK-N-SH	brain:	n/a	n/a
36	ETS1	chr17:38672767-38673605	A549	lung:	n/a	chr17:38673236-38673249 chr17:38673166-38673177 chr17:38673168-38673177
37	TFAP2C	chr17:38672809-38673654	Hela-S3	cervix:	n/a	chr17:38673168-38673177
38	MAFK	chr17:38672836-38673206	Hela-S3	cervix:	n/a	n/a
39	FOS	chr17:38672720-38673572	MCF10A-Er-Src	breast:	n/a	chr17:38673453-38673462
40	SP1	chr17:38672692-38673801	HCT-116	colon:	n/a	chr17:38673517-38673531
41	RUNX3	chr17:38672808-38673478	GM12878	blood:	n/a	n/a
42	EP300	chr17:38672802-38673462	HepG2	liver:	n/a	chr17:38673240-38673249
43	FOS	chr17:38672753-38673041	MCF10A-Er-Src	breast:	n/a	n/a
44	GATA3	chr17:38672635-38673665	SK-N-SH	brain:	n/a	chr17:38673259-38673266 chr17:38673260-38673277 chr17:38673134-38673141 chr17:38673238-38673248 chr17:38673259-38673266 chr17:38673167-38673177 chr17:38673259-38673266
45	REST	chr17:38672673-38673928	A549	lung:	n/a	chr17:38673347-38673360
46	CEBPB	chr17:38672825-38673007	A549	lung:	n/a	n/a
47	EP300	chr17:38672781-38673807	ECC-1	luminal epithelium:	n/a	chr17:38673240-38673249
48	MAX	chr17:38672788-38674012	A549	lung:	n/a	n/a
49	GATA3	chr17:38672723-38673678	A549	lung:	n/a	chr17:38673259-38673266 chr17:38673260-38673277 chr17:38673134-38673141 chr17:38673238-38673248 chr17:38673259-38673266 chr17:38673167-38673177 chr17:38673259-38673266
50	GATA3	chr17:38672590-38673940	A549	lung:	n/a	chr17:38673259-38673266 chr17:38673260-38673277 chr17:38673134-38673141 chr17:38673238-38673248 chr17:38673259-38673266 chr17:38673167-38673177 chr17:38673259-38673266

No.	Distal block	Cell Line	Cell type
1	chr17:38478596..38480701-chr17:38670841..38673186,2	MCF-7	breast:
2	chr17:38472782..38476711-chr17:38671565..38675024,4	MCF-7	breast:
3	chr17:38598777..38601316-chr17:38671536..38673167,2	K562	blood:
4	chr17:38476335..38479262-chr17:38671461..38673765,2	K562	blood:

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000131759	Chromatin interaction
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28493507	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4890086	1.00[AMR][1000 genomes]
rs499490	1.00[AMR][1000 genomes]
rs594783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60411936	0.87[EUR][1000 genomes]
rs7219622	0.96[ASN][1000 genomes]
rs8077724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895221	0.96[ASN][1000 genomes]
rs9901176	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38666800-38674400	Weak transcription	Pancreas	Pancrea
2	chr17:38666800-38675000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:38666800-38677400	Weak transcription	Right Atrium	heart
4	chr17:38667000-38673000	Enhancers	A549	lung
5	chr17:38667400-38673000	Weak transcription	Esophagus	oesophagus
6	chr17:38668200-38677400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:38668400-38680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:38668600-38675200	Weak transcription	Gastric	stomach
9	chr17:38668800-38674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:38669000-38673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:38670200-38673000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:38670200-38673000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr17:38670200-38673000	Weak transcription	HSMMtube	muscle
14	chr17:38670800-38673200	Enhancers	Fetal Thymus	thymus
15	chr17:38671200-38673000	Enhancers	HMEC	breast
16	chr17:38671200-38673200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:38671400-38673800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:38671400-38673800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr17:38671400-38673800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr17:38671400-38673800	Enhancers	Small Intestine	intestine
21	chr17:38671400-38674000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr17:38671400-38675400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:38671400-38679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:38671600-38673200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr17:38671600-38673600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:38671600-38673600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr17:38671600-38674000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr17:38671600-38679400	Enhancers	Placenta	Placenta
29	chr17:38671800-38673800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:38671800-38674000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr17:38671800-38674800	Enhancers	Primary hematopoietic stem cells	blood
32	chr17:38672000-38673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:38672000-38673200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr17:38672000-38673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr17:38672000-38673200	Weak transcription	Lung	lung
36	chr17:38672000-38673200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:38672200-38673400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr17:38672200-38679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:38672400-38674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:38672600-38673000	Enhancers	HSMM	muscle
41	chr17:38672600-38673200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr17:38672600-38673200	Enhancers	HepG2	liver
43	chr17:38672600-38673400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:38672600-38673600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr17:38672600-38673600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:38672600-38673800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:38672600-38673800	Enhancers	Stomach Mucosa	stomach
48	chr17:38672600-38673800	Enhancers	Spleen	Spleen
49	chr17:38672600-38673800	Enhancers	HUVEC	blood vessel
50	chr17:38672600-38674000	Flanking Active TSS	Primary T cells from cord blood	blood

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