Variant report

Variant	rs146585703
Chromosome Location	chr8:67525173-67525174
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	SMC3	chr8:67525134-67525867	K562	blood:	n/a	chr8:67525176-67525190
2	SMARCB1	chr8:67524566-67526408	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:67524885-67526155	A549	lung:	n/a	n/a
4	TEAD4	chr8:67525011-67525368	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:67525100-67525250	K562	blood:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
6	CTCF	chr8:67524977-67525332	H1-hESC	embryonic stem cell:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
7	POLR2A	chr8:67524893-67525641	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr8:67525142-67525286	MCF-7	breast:	n/a	chr8:67525174-67525192
9	TAF7	chr8:67525086-67525594	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr8:67525086-67526141	ECC-1	luminal epithelium:	n/a	n/a
11	EGR1	chr8:67524998-67525492	H1-hESC	embryonic stem cell:	n/a	chr8:67525237-67525247 chr8:67525235-67525248 chr8:67525238-67525247 chr8:67525098-67525108 chr8:67525235-67525249 chr8:67525266-67525276 chr8:67525235-67525248 chr8:67525238-67525248 chr8:67525235-67525248
12	SIN3AK20	chr8:67524459-67526100	SK-N-SH	brain:	n/a	n/a
13	NR2F2	chr8:67524621-67526033	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:67525100-67525250	HCPEpiC	choroid plexus:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
15	CTCF	chr8:67525120-67525270	HepG2	liver:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
16	E2F6	chr8:67524496-67525824	H1-hESC	embryonic stem cell:	n/a	chr8:67524928-67524939 chr8:67524927-67524939 chr8:67525555-67525564 chr8:67525771-67525781 chr8:67524970-67524981
17	POLR2A	chr8:67525122-67525624	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr8:67525080-67525230	HUVEC	blood vessel:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
19	POLR2A	chr8:67524939-67526092	A549	lung:	n/a	n/a
20	TEAD4	chr8:67525050-67526022	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr8:67525140-67525290	Caco-2	colon:	n/a	chr8:67525174-67525192
22	BRCA1	chr8:67525144-67525203	Hela-S3	cervix:	n/a	n/a
23	ZBTB7A	chr8:67524936-67526340	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr8:67524651-67526857	A549	lung:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
25	SMC3	chr8:67524599-67526683	Hela-S3	cervix:	n/a	chr8:67525176-67525190
26	POLR2A	chr8:67524646-67526480	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr8:67525088-67525268	HepG2	liver:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
28	UBTF	chr8:67525008-67526014	K562	blood:	n/a	n/a
29	E2F6	chr8:67524592-67525826	H1-hESC	embryonic stem cell:	n/a	chr8:67524928-67524939 chr8:67524927-67524939 chr8:67525555-67525564 chr8:67525771-67525781 chr8:67524970-67524981
30	EGR1	chr8:67524849-67526224	HCT-116	colon:	n/a	chr8:67525237-67525247 chr8:67525771-67525795 chr8:67525235-67525248 chr8:67525238-67525247 chr8:67525098-67525108 chr8:67525235-67525249 chr8:67525266-67525276 chr8:67525235-67525248 chr8:67525682-67525696 chr8:67525238-67525248 chr8:67525235-67525248
31	POLR2A	chr8:67524759-67526703	Hela-S3	cervix:	n/a	n/a
32	MYC	chr8:67525024-67526791	K562	blood:	n/a	chr8:67526414-67526424 chr8:67525537-67525546
33	SIN3AK20	chr8:67524827-67526313	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr8:67525020-67525949	H1-hESC	embryonic stem cell:	n/a	n/a
35	HMGN3	chr8:67524877-67526035	K562	blood:	n/a	n/a
36	CHD1	chr8:67525124-67525336	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:67524985-67525217	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr8:67525100-67525250	HCFaa	heart:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
39	CTCF	chr8:67525100-67525250	HCT-116	colon:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
40	TAF1	chr8:67525105-67526396	PFSK-1	brain:	n/a	n/a
41	EGR1	chr8:67524826-67525461	ECC-1	luminal epithelium:	n/a	chr8:67525237-67525247 chr8:67525235-67525248 chr8:67525238-67525247 chr8:67525098-67525108 chr8:67525235-67525249 chr8:67525266-67525276 chr8:67525235-67525248 chr8:67525238-67525248 chr8:67525235-67525248
42	CTCF	chr8:67525040-67525190	HFF-Myc	foreskin:	n/a	chr8:67525123-67525136
43	POLR2A	chr8:67525043-67526099	HCT-116	colon:	n/a	n/a
44	ELF1	chr8:67524584-67526555	HCT-116	colon:	n/a	n/a
45	CTCF	chr8:67525100-67525250	AG04449	skin:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
46	ELF1	chr8:67524587-67526066	GM12878	blood:	n/a	n/a
47	CTCF	chr8:67525053-67525916	K562	blood:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
48	POLR2A	chr8:67525100-67526508	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr8:67525068-67525910	IMR90	lung:	n/a	chr8:67525174-67525192 chr8:67525123-67525136
50	CTCF	chr8:67525080-67525230	NHEK	skin:	n/a	chr8:67525174-67525192 chr8:67525123-67525136

No.	Distal block	Cell Line	Cell type
1	chr8:67524115..67526215-chr8:67685855..67687886,2	K562	blood:
2	chr8:67523268..67525543-chr8:67973888..67976833,2	MCF-7	breast:
3	chr8:67521707..67525650-chr8:67623825..67627698,8	MCF-7	breast:
4	chr8:67523974..67528801-chr8:67579151..67581998,7	K562	blood:
5	chr12:110718828..110719502-chr8:67524980..67525790,2	HCT-116	colon:
6	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
7	chr8:67371423..67376205-chr8:67520601..67527002,8	MCF-7	breast:
8	chr8:67523934..67528477-chr8:67576797..67579768,6	MCF-7	breast:
9	chr8:67524099..67528801-chr8:67579151..67581449,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYBL1-2	chr8:67524380-67526482	NONHSAT127036
2	lnc-MYBL1-2	chr8:67524926-67525427	NONHSAT127037

Variant related genes	Relation type
MYBL1	TF binding region
ENSG00000121022	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000174437	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv994614	chr8:67524820-67525293	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67522200-67526200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:67522200-67526400	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr8:67522600-67527000	Active TSS	NHLF	lung
4	chr8:67522800-67526400	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr8:67523200-67526400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:67523200-67526600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:67523200-67526600	Active TSS	HSMM	muscle
8	chr8:67523400-67526400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:67523600-67525200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:67523600-67525200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr8:67523600-67526200	Active TSS	NH-A	brain
12	chr8:67523600-67526800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:67523800-67526200	Active TSS	Brain Germinal Matrix	brain
14	chr8:67523800-67527000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:67524000-67526200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr8:67524000-67526400	Active TSS	HMEC	breast
17	chr8:67524000-67526800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:67524200-67526400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:67524200-67526400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:67524200-67526800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:67524200-67526800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:67524200-67526800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:67524200-67526800	Active TSS	NHDF-Ad	bronchial
24	chr8:67524200-67527000	Active TSS	A549	lung
25	chr8:67524400-67525200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
26	chr8:67524400-67525200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr8:67524400-67525200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr8:67524400-67525400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:67524400-67525400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:67524400-67525800	Active TSS	HepG2	liver
31	chr8:67524400-67526200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:67524400-67526400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:67524400-67526400	Active TSS	Fetal Kidney	kidney
34	chr8:67524400-67526600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:67524400-67526600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:67524400-67526600	Active TSS	HSMMtube	muscle
37	chr8:67524400-67526800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:67524400-67526800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr8:67524600-67525200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:67524600-67525200	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr8:67524600-67525200	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr8:67524600-67525200	Flanking Active TSS	Esophagus	oesophagus
46	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr8:67524600-67525200	Flanking Active TSS	Placenta	Placenta
48	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr8:67524600-67525200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr8:67524600-67525200	Flanking Active TSS	Pancreas	Pancrea

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