Variant report

Variant	rs369771279
Chromosome Location	chr6:64282044-64282045
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	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	POLR2A	chr6:64282020-64282762	A549	lung:	n/a	n/a
5	MEF2A	chr6:64281970-64282617	GM12878	blood:	n/a	n/a
6	STAT3	chr6:64281504-64282321	MCF10A-Er-Src	breast:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
7	ELF1	chr6:64281962-64282359	HepG2	liver:	n/a	chr6:64282137-64282150 chr6:64282239-64282251 chr6:64282238-64282250
8	POLR2A	chr6:64281699-64283884	A549	lung:	n/a	n/a
9	KAP1	chr6:64281327-64282460	HEK293	kidney:	n/a	chr6:64281829-64281838
10	TAF1	chr6:64281774-64283895	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:64281756-64284414	ProgFib	skin:	n/a	n/a
12	FOSL2	chr6:64281584-64282750	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
13	POLR2A	chr6:64281534-64284532	GM18526	blood:	n/a	n/a
14	RCOR1	chr6:64281654-64282686	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:64281726-64282709	K562	blood:	n/a	n/a
16	NFATC1	chr6:64281700-64282301	GM12878	blood:	n/a	n/a
17	JUN	chr6:64281927-64282406	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUN	chr6:64281244-64282318	Hela-S3	cervix:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
19	SMC3	chr6:64281423-64282356	HepG2	liver:	n/a	chr6:64281770-64281780
20	MYBL2	chr6:64281097-64282631	HepG2	liver:	n/a	n/a
21	MTA3	chr6:64281531-64282313	GM12878	blood:	n/a	n/a
22	CEBPB	chr6:64281388-64282514	K562	blood:	n/a	n/a
23	MAX	chr6:64281450-64282696	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
24	POLR2A	chr6:64281683-64283883	ECC-1	luminal epithelium:	n/a	n/a
25	CREB1	chr6:64281829-64282614	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:64281938-64284042	HUVEC	blood vessel:	n/a	n/a
27	CEBPB	chr6:64281555-64282064	ECC-1	luminal epithelium:	n/a	n/a
28	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
29	IRF1	chr6:64281826-64282639	K562	blood:	n/a	chr6:64282266-64282280
30	HEY1	chr6:64281682-64284600	K562	blood:	n/a	chr6:64283529-64283544 chr6:64282276-64282291 chr6:64282913-64282928 chr6:64282238-64282253
31	EBF1	chr6:64281613-64282059	GM12878	blood:	n/a	chr6:64281771-64281782 chr6:64281773-64281782
32	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
33	FOXA1	chr6:64281723-64282082	T-47D	breast:	n/a	n/a
34	NR3C1	chr6:64281564-64282064	A549	lung:	n/a	n/a
35	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
36	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
37	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
38	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
39	POLR2A	chr6:64281734-64283783	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	BATF	chr6:64281992-64282265	GM12878	blood:	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.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:64281996-64282046	GM12892	blood:	n/a
2	chr6:64281996-64282046	AG09309	skin:	n/a
3	chr6:64281996-64282046	SK-N-MC	brain:	n/a
4	chr6:64281996-64282046	HCPEpiC	choroid plexus:	n/a
5	chr6:64281996-64282046	GM06990	blood:	n/a
6	chr6:64281996-64282046	PANC-1	pancreas:	n/a
7	chr6:64281996-64282046	BJ	skin:	n/a
8	chr6:64281996-64282046	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:64281996-64282046	Caco-2	colon:	n/a
10	chr6:64281996-64282046	HRE	kidney:	n/a
11	chr6:64281996-64282046	HNPCEpiC	eye:	n/a
12	chr6:64281996-64282046	CMK	blood:	n/a
13	chr6:64281996-64282046	Jurkat	blood:	n/a
14	chr6:64281996-64282046	GM12878	blood:	n/a
15	chr6:64281996-64282046	A549	lung:	n/a
16	chr6:64281996-64282046	SAEC	small airway:	n/a
17	chr6:64281996-64282046	LNCaP	prostate:	n/a
18	chr6:64281996-64282046	AG04449	skin:	fetal
19	chr6:64281996-64282046	HAEpiC	amniotic membrane:	n/a
20	chr6:64281996-64282046	NHBE	bronchial:	n/a
21	chr6:64281996-64282046	T-47D	breast:	n/a
22	chr6:64281996-64282046	H1-hESC	embryonic stem cell:	embryo
23	chr6:64281996-64282046	BE2_C	brain:	n/a
24	chr6:64281996-64282046	PrEC	prostate:	n/a
25	chr6:64281996-64282046	AG09319	gingival:	n/a
26	chr6:64281996-64282046	HCF	heart:	n/a
27	chr6:64281996-64282046	Hela-S3	cervix:	n/a
28	chr6:64281996-64282046	HMEC	breast:	n/a
29	chr6:64281996-64282046	U87	brain:	n/a
30	chr6:64281996-64282046	MCF-7	breast:	n/a
31	chr6:64281996-64282046	HRPEpiC	eye:	n/a
32	chr6:64281996-64282046	ovcar-3	ovarian:	n/a
33	chr6:64281996-64282046	AoSMC	blood vessel:	n/a
34	chr6:64281996-64282046	SK-N-SH	brain:	n/a
35	chr6:64281996-64282046	ECC-1	luminal epithelium:	n/a
36	chr6:64281996-64282046	HRCEpiC	kidney:	n/a
37	chr6:64281996-64282046	SK-N-SH_RA	brain:	n/a
38	chr6:64281996-64282046	HL-60	blood:	n/a
39	chr6:64281996-64282046	Hepatocyte	liver:	n/a
40	chr6:64281996-64282046	NT2-D1	testis:	n/a
41	chr6:64281996-64282046	HIPEpiC	eye:	n/a
42	chr6:64281996-64282046	HEEpiC	esophagus:	n/a
43	chr6:64281996-64282046	NB4	blood:	n/a
44	chr6:64281996-64282046	PFSK-1	brain:	n/a
45	chr6:64281996-64282046	AG10803	skin:	n/a
46	chr6:64281996-64282046	NHDF-neo	bronchial:	n/a
47	chr6:64281996-64282046	K562	blood:	n/a
48	chr6:64281996-64282046	HCT-116	colon:	n/a
49	chr6:64281996-64282046	SKMC	muscle:	n/a
50	chr6:64281996-64282046	NH-A	brain:	n/a

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
PTP4A1	CpG island
ENSG00000202538	Chromatin interaction
ENSG00000213312	Chromatin interaction
ENSG00000218274	Chromatin interaction
ENSG00000141349	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000159216	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	chr6:64281200-64282200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:64281200-64282200	Flanking Active TSS	NHEK	skin
5	chr6:64281200-64282600	Active TSS	Brain Germinal Matrix	brain
6	chr6:64281200-64282600	Active TSS	A549	lung
7	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
9	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:64281400-64282200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:64281400-64282200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:64281400-64282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:64281400-64282200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:64281400-64282600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:64281400-64284000	Active TSS	Brain Substantia Nigra	brain
18	chr6:64281400-64284400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:64281400-64284600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:64281400-64284800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:64281400-64284800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:64281400-64284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:64281400-64285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:64281400-64285000	Active TSS	Colonic Mucosa	Colon
25	chr6:64281400-64285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:64281400-64285400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:64281400-64285400	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:64281400-64285600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:64281400-64285800	Active TSS	Fetal Intestine Large	intestine
30	chr6:64281400-64286400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:64281600-64282200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr6:64281600-64282200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr6:64281600-64282200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:64281600-64282200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:64281600-64282200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr6:64281600-64282200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:64281600-64282200	Flanking Active TSS	Dnd41	blood
38	chr6:64281600-64282200	Flanking Active TSS	K562	blood
39	chr6:64281600-64282400	Active TSS	Right Atrium	heart
40	chr6:64281600-64282800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:64281600-64283600	Active TSS	Hela-S3	cervix
42	chr6:64281600-64284000	Active TSS	Fetal Intestine Small	intestine
43	chr6:64281600-64284200	Active TSS	Left Ventricle	heart
44	chr6:64281600-64284200	Active TSS	Pancreas	Pancrea
45	chr6:64281600-64284200	Active TSS	HSMMtube	muscle
46	chr6:64281600-64284400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:64281600-64284400	Active TSS	Fetal Muscle Trunk	muscle
48	chr6:64281600-64284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:64281600-64284600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:64281600-64284600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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