Variant report

Variant	rs552748104
Chromosome Location	chr6:64281986-64281987
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	ZNF143	chr6:64281473-64282695	GM12878	blood:	n/a	n/a
2	TAF1	chr6:64281822-64282073	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr6:64281795-64284587	K562	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
4	MEF2A	chr6:64281970-64282617	GM12878	blood:	n/a	n/a
5	STAT3	chr6:64281504-64282321	MCF10A-Er-Src	breast:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
6	ELF1	chr6:64281962-64282359	HepG2	liver:	n/a	chr6:64282137-64282150 chr6:64282239-64282251 chr6:64282238-64282250
7	POLR2A	chr6:64281699-64283884	A549	lung:	n/a	n/a
8	KAP1	chr6:64281327-64282460	HEK293	kidney:	n/a	chr6:64281829-64281838
9	TAF1	chr6:64281774-64283895	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:64281756-64284414	ProgFib	skin:	n/a	n/a
11	FOSL2	chr6:64281584-64282750	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
12	POLR2A	chr6:64281534-64284532	GM18526	blood:	n/a	n/a
13	RCOR1	chr6:64281654-64282686	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:64281726-64282709	K562	blood:	n/a	n/a
15	NFATC1	chr6:64281700-64282301	GM12878	blood:	n/a	n/a
16	JUN	chr6:64281927-64282406	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUN	chr6:64281244-64282318	Hela-S3	cervix:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
18	SMC3	chr6:64281423-64282356	HepG2	liver:	n/a	chr6:64281770-64281780
19	MYBL2	chr6:64281097-64282631	HepG2	liver:	n/a	n/a
20	MTA3	chr6:64281531-64282313	GM12878	blood:	n/a	n/a
21	CEBPB	chr6:64281388-64282514	K562	blood:	n/a	n/a
22	MAX	chr6:64281450-64282696	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
23	POLR2A	chr6:64281683-64283883	ECC-1	luminal epithelium:	n/a	n/a
24	CREB1	chr6:64281829-64282614	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr6:64281938-64284042	HUVEC	blood vessel:	n/a	n/a
26	CEBPB	chr6:64281555-64282064	ECC-1	luminal epithelium:	n/a	n/a
27	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
28	IRF1	chr6:64281826-64282639	K562	blood:	n/a	chr6:64282266-64282280
29	HEY1	chr6:64281682-64284600	K562	blood:	n/a	chr6:64283529-64283544 chr6:64282276-64282291 chr6:64282913-64282928 chr6:64282238-64282253
30	EBF1	chr6:64281613-64282059	GM12878	blood:	n/a	chr6:64281771-64281782 chr6:64281773-64281782
31	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:64281723-64282082	T-47D	breast:	n/a	n/a
33	NR3C1	chr6:64281564-64282064	A549	lung:	n/a	n/a
34	EGR1	chr6:64281924-64282645	MCF-7	breast:	n/a	chr6:64282278-64282291 chr6:64282278-64282291 chr6:64282279-64282290 chr6:64282175-64282188 chr6:64282277-64282292 chr6:64282275-64282289 chr6:64282264-64282274 chr6:64282278-64282291 chr6:64282277-64282291 chr6:64282278-64282288 chr6:64282262-64282275 chr6:64282279-64282288 chr6:64282278-64282291
35	EGR1	chr6:64281892-64282556	H1-hESC	embryonic stem cell:	n/a	chr6:64282278-64282291 chr6:64282278-64282291 chr6:64282279-64282290 chr6:64282175-64282188 chr6:64282277-64282292 chr6:64282275-64282289 chr6:64282264-64282274 chr6:64282278-64282291 chr6:64282277-64282291 chr6:64282278-64282288 chr6:64282262-64282275 chr6:64282279-64282288 chr6:64282278-64282291
36	EGR1	chr6:64281917-64282546	MCF-7	breast:	n/a	chr6:64282278-64282291 chr6:64282278-64282291 chr6:64282279-64282290 chr6:64282175-64282188 chr6:64282277-64282292 chr6:64282275-64282289 chr6:64282264-64282274 chr6:64282278-64282291 chr6:64282277-64282291 chr6:64282278-64282288 chr6:64282262-64282275 chr6:64282279-64282288 chr6:64282278-64282291
37	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
38	POLR2A	chr6:64281734-64283783	A549	lung:	n/a	n/a
39	CREB1	chr6:64281455-64282030	A549	lung:	n/a	n/a
40	POU2F2	chr6:64281654-64282780	GM12878	blood:	n/a	n/a
41	USF1	chr6:64281610-64282054	A549	lung:	n/a	n/a
42	NFYB	chr6:64281283-64282556	Hela-S3	cervix:	n/a	chr6:64282318-64282333
43	ATF1	chr6:64281800-64282557	K562	blood:	n/a	n/a
44	PAX5	chr6:64281773-64282764	GM12878	blood:	n/a	n/a
45	STAT5A	chr6:64281685-64284185	GM12878	blood:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
46	ZNF143	chr6:64281646-64282557	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr6:64281860-64282010	HCT-116	colon:	n/a	n/a
48	YY1	chr6:64281713-64282287	H1-hESC	embryonic stem cell:	n/a	chr6:64282237-64282246 chr6:64282235-64282249 chr6:64282262-64282276 chr6:64282161-64282172 chr6:64282177-64282188 chr6:64282238-64282252 chr6:64282237-64282251
49	POLR2A	chr6:64281984-64282793	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr6:64281310-64282515	MCF10A-Er-Src	breast:	n/a	chr6:64281828-64281836 chr6:64281827-64281837

No.	Distal block	Cell Line	Cell type
1	chr6:64257894..64259576-chr6:64281719..64283676,2	MCF-7	breast:
2	chr6:64281185..64283276-chr6:64354307..64357055,2	K562	blood:
3	chr6:64104502..64107247-chr6:64280921..64282714,2	K562	blood:
4	chr6:64228157..64231841-chr6:64281826..64284222,3	MCF-7	breast:
5	chr21:36260458..36261057-chr6:64281730..64282507,2	Hela-S3	cervix:
6	chr12:120729201..120730043-chr6:64281926..64282659,3	Hela-S3	cervix:
7	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
8	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:
9	chr17:42147987..42148825-chr6:64281830..64282387,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EYS-2	chr6:64280910-64282313	ENSG00000266680.1

Variant related genes	Relation type
PTP4A1	TF binding region
ENSG00000141349	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000218274	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000213312	Chromatin interaction
ENSG00000118482	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3373173	chr6:64281418-64284366	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64280400-64282200	Flanking Active TSS	HepG2	liver
2	chr6:64280400-64285200	Active TSS	Liver	Liver
3	chr6:64281000-64282000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:64281200-64282000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:64281200-64282000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr6:64281200-64282000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr6:64281200-64282000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr6:64281200-64282000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:64281200-64282000	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr6:64281200-64282000	Flanking Active TSS	NH-A	brain
11	chr6:64281200-64282200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr6:64281200-64282200	Flanking Active TSS	NHEK	skin
13	chr6:64281200-64282600	Active TSS	Brain Germinal Matrix	brain
14	chr6:64281200-64282600	Active TSS	A549	lung
15	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
17	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:64281400-64282000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr6:64281400-64282000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:64281400-64282000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:64281400-64282000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:64281400-64282000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr6:64281400-64282000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr6:64281400-64282000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:64281400-64282000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:64281400-64282000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:64281400-64282000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr6:64281400-64282000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr6:64281400-64282000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr6:64281400-64282000	Flanking Active TSS	GM12878-XiMat	blood
31	chr6:64281400-64282000	Flanking Active TSS	Osteobl	bone
32	chr6:64281400-64282200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:64281400-64282200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:64281400-64282200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:64281400-64282600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:64281400-64284000	Active TSS	Brain Substantia Nigra	brain
40	chr6:64281400-64284400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:64281400-64284600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:64281400-64284800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:64281400-64284800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:64281400-64284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:64281400-64285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:64281400-64285000	Active TSS	Colonic Mucosa	Colon
47	chr6:64281400-64285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:64281400-64285400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:64281400-64285400	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:64281400-64285600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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