Variant report

Variant	rs201190738
Chromosome Location	chr6:64282551-64282552
allele	G/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	MAZ	chr6:64281795-64284587	K562	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
3	POLR2A	chr6:64282020-64282762	A549	lung:	n/a	n/a
4	MEF2A	chr6:64281970-64282617	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:64281699-64283884	A549	lung:	n/a	n/a
6	TAF1	chr6:64281774-64283895	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:64281756-64284414	ProgFib	skin:	n/a	n/a
8	FOSL2	chr6:64281584-64282750	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
9	POLR2A	chr6:64281534-64284532	GM18526	blood:	n/a	n/a
10	SP1	chr6:64282122-64282573	K562	blood:	n/a	chr6:64282268-64282277 chr6:64282266-64282278 chr6:64282179-64282188 chr6:64282275-64282287 chr6:64282277-64282286 chr6:64282267-64282276 chr6:64282275-64282287 chr6:64282180-64282189 chr6:64282266-64282278 chr6:64282169-64282183 chr6:64282266-64282277
11	RCOR1	chr6:64281654-64282686	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:64281726-64282709	K562	blood:	n/a	n/a
13	YY1	chr6:64282220-64282659	ECC-1	luminal epithelium:	n/a	chr6:64282237-64282246 chr6:64282235-64282249 chr6:64282262-64282276 chr6:64282238-64282252 chr6:64282280-64282289 chr6:64282237-64282251
14	MYBL2	chr6:64281097-64282631	HepG2	liver:	n/a	n/a
15	MAX	chr6:64281450-64282696	H1-hESC	embryonic stem cell:	n/a	chr6:64282020-64282029 chr6:64282281-64282291 chr6:64282265-64282275
16	POLR2A	chr6:64281683-64283883	ECC-1	luminal epithelium:	n/a	n/a
17	CREB1	chr6:64281829-64282614	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr6:64282329-64282587	Fibrobl	skin:	n/a	n/a
19	POLR2A	chr6:64281938-64284042	HUVEC	blood vessel:	n/a	n/a
20	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
21	IRF1	chr6:64281826-64282639	K562	blood:	n/a	chr6:64282266-64282280
22	HEY1	chr6:64281682-64284600	K562	blood:	n/a	chr6:64283529-64283544 chr6:64282276-64282291 chr6:64282913-64282928 chr6:64282238-64282253
23	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
24	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
25	MYC	chr6:64282329-64282569	MCF-7	breast:	n/a	n/a
26	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
27	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
28	TAF1	chr6:64282193-64282587	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr6:64281734-64283783	A549	lung:	n/a	n/a
30	POU2F2	chr6:64281654-64282780	GM12878	blood:	n/a	n/a
31	NFYB	chr6:64281283-64282556	Hela-S3	cervix:	n/a	chr6:64282318-64282333
32	ATF1	chr6:64281800-64282557	K562	blood:	n/a	n/a
33	PAX5	chr6:64281773-64282764	GM12878	blood:	n/a	n/a
34	STAT5A	chr6:64281685-64284185	GM12878	blood:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
35	ZNF143	chr6:64281646-64282557	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:64281984-64282793	HUVEC	blood vessel:	n/a	n/a
37	GABPA	chr6:64282097-64283286	K562	blood:	n/a	chr6:64282953-64282962
38	CTCF	chr6:64282540-64282690	HCPEpiC	choroid plexus:	n/a	n/a
39	CBX3	chr6:64281443-64282640	HCT-116	colon:	n/a	n/a
40	JUND	chr6:64281525-64282673	HepG2	liver:	n/a	chr6:64281828-64281836 chr6:64281827-64281837
41	POLR2A	chr6:64281673-64284840	PFSK-1	brain:	n/a	n/a
42	REST	chr6:64282042-64282600	SK-N-SH	brain:	n/a	chr6:64282153-64282166
43	POLR2A	chr6:64280071-64285528	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr6:64282540-64282584	HUVEC	blood vessel:	n/a	n/a
45	GATA3	chr6:64281369-64282680	A549	lung:	n/a	n/a
46	POLR2A	chr6:64281915-64284104	K562	blood:	n/a	n/a
47	NRF1	chr6:64282171-64282623	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr6:64281965-64283871	ECC-1	luminal epithelium:	n/a	n/a
49	IRF1	chr6:64281984-64282620	K562	blood:	n/a	chr6:64282266-64282280
50	SP4	chr6:64282066-64282617	H1-hESC	embryonic stem cell:	n/a	chr6:64282262-64282278 chr6:64282266-64282277

No.	Distal block	Cell Line	Cell type
1	chr6:64028950..64031387-chr6:64282272..64283955,2	MCF-7	breast:
2	chr6:64257894..64259576-chr6:64281719..64283676,2	MCF-7	breast:
3	chr6:64281185..64283276-chr6:64354307..64357055,2	K562	blood:
4	chr6:64282139..64282927-chrX:21857442..21858101,2	Hela-S3	cervix:
5	chr6:64104502..64107247-chr6:64280921..64282714,2	K562	blood:
6	chr6:64228157..64231841-chr6:64281826..64284222,3	MCF-7	breast:
7	chr11:67272765..67273611-chr6:64282217..64282965,2	Hela-S3	cervix:
8	chr12:120729201..120730043-chr6:64281926..64282659,3	Hela-S3	cervix:
9	chr20:47894666..47895388-chr6:64282272..64283253,2	NB4	blood:
10	chr6:64282300..64285121-chr6:64344482..64347606,3	MCF-7	breast:
11	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
12	chr10:96305623..96306527-chr6:64282239..64282872,2	Hela-S3	cervix:
13	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:

Variant related genes	Relation type
PTP4A1	TF binding region
ENSG00000266680	TF binding region
ENSG00000124201	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000213312	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000118482	Chromatin interaction
ENSG00000012174	Chromatin interaction
ENSG00000218274	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000146166	Chromatin interaction
ENSG00000119969	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	esv3412678	chr6:64282218-64284766	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr6:64280400-64285200	Active TSS	Liver	Liver
2	chr6:64281200-64282600	Active TSS	Brain Germinal Matrix	brain
3	chr6:64281200-64282600	Active TSS	A549	lung
4	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
6	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:64281400-64282600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:64281400-64284000	Active TSS	Brain Substantia Nigra	brain
9	chr6:64281400-64284400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:64281400-64284600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:64281400-64284800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:64281400-64284800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:64281400-64284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:64281400-64285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:64281400-64285000	Active TSS	Colonic Mucosa	Colon
16	chr6:64281400-64285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:64281400-64285400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:64281400-64285400	Active TSS	Stomach Smooth Muscle	stomach
19	chr6:64281400-64285600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:64281400-64285800	Active TSS	Fetal Intestine Large	intestine
21	chr6:64281400-64286400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:64281600-64282800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:64281600-64283600	Active TSS	Hela-S3	cervix
24	chr6:64281600-64284000	Active TSS	Fetal Intestine Small	intestine
25	chr6:64281600-64284200	Active TSS	Left Ventricle	heart
26	chr6:64281600-64284200	Active TSS	Pancreas	Pancrea
27	chr6:64281600-64284200	Active TSS	HSMMtube	muscle
28	chr6:64281600-64284400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:64281600-64284400	Active TSS	Fetal Muscle Trunk	muscle
30	chr6:64281600-64284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:64281600-64284600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:64281600-64284600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:64281600-64284600	Active TSS	Placenta	Placenta
34	chr6:64281600-64284600	Active TSS	Thymus	Thymus
35	chr6:64281600-64284800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:64281600-64285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:64281600-64285600	Active TSS	Psoas Muscle	Psoas
38	chr6:64281800-64283600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:64281800-64283800	Active TSS	Fetal Heart	heart
40	chr6:64281800-64283800	Active TSS	Right Ventricle	heart
41	chr6:64281800-64284000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:64281800-64284000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:64281800-64284000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:64281800-64284000	Active TSS	Brain Hippocampus Middle	brain
45	chr6:64281800-64284000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:64281800-64284000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr6:64281800-64284000	Active TSS	Small Intestine	intestine
48	chr6:64281800-64284200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:64281800-64284200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:64281800-64284200	Active TSS	Gastric	stomach

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