Variant report

Variant	rs542371768
Chromosome Location	chr6:64282767-64282768
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	MAZ	chr6:64281795-64284587	K562	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
2	POLR2A	chr6:64281699-64283884	A549	lung:	n/a	n/a
3	TAF1	chr6:64281774-64283895	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:64281756-64284414	ProgFib	skin:	n/a	n/a
5	POLR2A	chr6:64281534-64284532	GM18526	blood:	n/a	n/a
6	POLR2A	chr6:64281683-64283883	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr6:64281938-64284042	HUVEC	blood vessel:	n/a	n/a
8	PML	chr6:64281379-64284728	GM12878	blood:	n/a	chr6:64284627-64284636 chr6:64281829-64281838 chr6:64284624-64284633
9	HEY1	chr6:64281682-64284600	K562	blood:	n/a	chr6:64283529-64283544 chr6:64282276-64282291 chr6:64282913-64282928 chr6:64282238-64282253
10	CREB1	chr6:64281310-64284649	HepG2	liver:	n/a	n/a
11	REST	chr6:64281270-64282775	A549	lung:	n/a	chr6:64282153-64282166
12	POLR2A	chr6:64281734-64283783	A549	lung:	n/a	n/a
13	POU2F2	chr6:64281654-64282780	GM12878	blood:	n/a	n/a
14	STAT5A	chr6:64281685-64284185	GM12878	blood:	n/a	chr6:64282170-64282182 chr6:64282175-64282187
15	POLR2A	chr6:64281984-64282793	HUVEC	blood vessel:	n/a	n/a
16	GABPA	chr6:64282097-64283286	K562	blood:	n/a	chr6:64282953-64282962
17	POLR2A	chr6:64281673-64284840	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr6:64280071-64285528	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:64281915-64284104	K562	blood:	n/a	n/a
20	TAF1	chr6:64281965-64283871	ECC-1	luminal epithelium:	n/a	n/a
21	CHD2	chr6:64281450-64284518	HepG2	liver:	n/a	chr6:64283784-64283791
22	POLR2A	chr6:64281668-64284065	GM12878	blood:	n/a	n/a
23	TAF1	chr6:64282074-64283848	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:64281894-64283814	HepG2	liver:	n/a	n/a
25	YY1	chr6:64281628-64283803	HepG2	liver:	n/a	chr6:64282237-64282246 chr6:64283531-64283545 chr6:64282922-64282933 chr6:64282235-64282249 chr6:64282899-64282908 chr6:64282262-64282276 chr6:64282993-64283002 chr6:64282902-64282911 chr6:64282902-64282916 chr6:64282161-64282172 chr6:64282831-64282842 chr6:64282177-64282188 chr6:64282238-64282252 chr6:64282280-64282289 chr6:64282237-64282251 chr6:64282922-64282936
26	ZEB1	chr6:64281147-64284682	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:64281436-64284504	HepG2	liver:	n/a	n/a
28	MAX	chr6:64281357-64284636	HCT-116	colon:	n/a	chr6:64284625-64284634 chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275 chr6:64284626-64284635
29	POLR2A	chr6:64281143-64285005	GM12878	blood:	n/a	n/a
30	USF2	chr6:64281585-64283955	H1-hESC	embryonic stem cell:	n/a	chr6:64282922-64282938 chr6:64282293-64282309 chr6:64282948-64282964 chr6:64282236-64282252 chr6:64282890-64282906 chr6:64282279-64282295 chr6:64282237-64282253 chr6:64282231-64282247 chr6:64282019-64282030 chr6:64282239-64282255 chr6:64282410-64282426 chr6:64282920-64282936
31	POLR2A	chr6:64281946-64284123	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr6:64281641-64284730	PBDE	blood:	n/a	n/a
33	POLR2A	chr6:64279467-64285844	HepG2	liver:	n/a	n/a
34	GATA3	chr6:64281154-64282890	A549	lung:	n/a	n/a
35	CREB1	chr6:64281687-64282772	K562	blood:	n/a	n/a
36	POLR2A	chr6:64281397-64284016	H1-neurons	neurons:	n/a	n/a
37	RUNX3	chr6:64282759-64284615	GM12878	blood:	n/a	n/a
38	UBTF	chr6:64282033-64283971	K562	blood:	n/a	n/a
39	PAX5	chr6:64282113-64283582	GM12892	blood:	n/a	n/a
40	CTCF	chr6:64282720-64282870	GM12875	blood:	n/a	n/a
41	RFX5	chr6:64281117-64282814	SK-N-SH	brain:	n/a	n/a
42	YY1	chr6:64282297-64282831	A549	lung:	n/a	n/a
43	ELF1	chr6:64281801-64283936	GM12878	blood:	n/a	chr6:64282882-64282894 chr6:64282137-64282150 chr6:64282993-64283002 chr6:64282239-64282251 chr6:64282238-64282250 chr6:64282989-64283001 chr6:64282922-64282934
44	MYC	chr6:64281437-64284060	NB4	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
45	MAX	chr6:64281582-64284597	GM12878	blood:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
46	FOSL2	chr6:64281381-64282779	A549	lung:	n/a	chr6:64281828-64281836 chr6:64281827-64281837 chr6:64282670-64282679
47	MAX	chr6:64281584-64284249	HepG2	liver:	n/a	chr6:64282020-64282029 chr6:64282925-64282935 chr6:64282281-64282291 chr6:64283538-64283548 chr6:64282265-64282275
48	POLR2A	chr6:64281573-64284087	HCT-116	colon:	n/a	n/a
49	POLR2A	chr6:64280685-64285889	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:64281664-64284505	GM18951	blood:	n/a	n/a

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	chr6:64228157..64231841-chr6:64281826..64284222,3	MCF-7	breast:
6	chr11:67272765..67273611-chr6:64282217..64282965,2	Hela-S3	cervix:
7	chr20:47894666..47895388-chr6:64282272..64283253,2	NB4	blood:
8	chr6:64282300..64285121-chr6:64344482..64347606,3	MCF-7	breast:
9	chr6:64281350..64286126-chr6:64342580..64350015,13	K562	blood:
10	chr10:96305623..96306527-chr6:64282239..64282872,2	Hela-S3	cervix:
11	chr6:64280920..64286126-chr6:64341540..64349518,16	K562	blood:

Variant related genes	Relation type
ENSG00000266680	TF binding region
PTP4A1	TF binding region
ENSG00000124201	Chromatin interaction
ENSG00000118482	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000012174	Chromatin interaction
ENSG00000213312	Chromatin interaction
ENSG00000146166	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000119969	Chromatin interaction
ENSG00000177410	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	chr6:64281200-64284600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:64281200-64284600	Active TSS	Fetal Brain Female	brain
4	chr6:64281200-64284800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:64281400-64284000	Active TSS	Brain Substantia Nigra	brain
6	chr6:64281400-64284400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:64281400-64284600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:64281400-64284800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:64281400-64284800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:64281400-64284800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:64281400-64285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:64281400-64285000	Active TSS	Colonic Mucosa	Colon
13	chr6:64281400-64285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:64281400-64285400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:64281400-64285400	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:64281400-64285600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:64281400-64285800	Active TSS	Fetal Intestine Large	intestine
18	chr6:64281400-64286400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:64281600-64282800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:64281600-64283600	Active TSS	Hela-S3	cervix
21	chr6:64281600-64284000	Active TSS	Fetal Intestine Small	intestine
22	chr6:64281600-64284200	Active TSS	Left Ventricle	heart
23	chr6:64281600-64284200	Active TSS	Pancreas	Pancrea
24	chr6:64281600-64284200	Active TSS	HSMMtube	muscle
25	chr6:64281600-64284400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:64281600-64284400	Active TSS	Fetal Muscle Trunk	muscle
27	chr6:64281600-64284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:64281600-64284600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:64281600-64284600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:64281600-64284600	Active TSS	Placenta	Placenta
31	chr6:64281600-64284600	Active TSS	Thymus	Thymus
32	chr6:64281600-64284800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:64281600-64285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:64281600-64285600	Active TSS	Psoas Muscle	Psoas
35	chr6:64281800-64283600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr6:64281800-64283800	Active TSS	Fetal Heart	heart
37	chr6:64281800-64283800	Active TSS	Right Ventricle	heart
38	chr6:64281800-64284000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:64281800-64284000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:64281800-64284000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:64281800-64284000	Active TSS	Brain Hippocampus Middle	brain
42	chr6:64281800-64284000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:64281800-64284000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr6:64281800-64284000	Active TSS	Small Intestine	intestine
45	chr6:64281800-64284200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:64281800-64284200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:64281800-64284200	Active TSS	Gastric	stomach
48	chr6:64281800-64284400	Active TSS	Aorta	Aorta
49	chr6:64281800-64284400	Active TSS	Ovary	ovary
50	chr6:64281800-64284600	Active TSS	Sigmoid Colon	Sigmoid Colon

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