Variant report

Variant	rs539447491
Chromosome Location	chr15:77712398-77712399
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	POLR2A	chr15:77712253-77713835	K562	blood:	n/a	n/a
2	POLR2A	chr15:77711788-77714120	GM12878	blood:	n/a	n/a
3	HA-E2F1	chr15:77712181-77713312	MCF-7	breast:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
4	E2F6	chr15:77711687-77713457	K562	blood:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
5	TAF1	chr15:77712301-77712521	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:77711874-77713573	HUVEC	blood vessel:	n/a	n/a
7	MXI1	chr15:77712300-77714065	GM12878	blood:	n/a	n/a
8	TAF1	chr15:77712189-77713746	GM12878	blood:	n/a	n/a
9	TAF1	chr15:77712207-77712733	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr15:77712203-77713918	GM12878	blood:	n/a	n/a
11	MAX	chr15:77712380-77713797	MCF-7	breast:	n/a	chr15:77712740-77712750
12	CHD2	chr15:77712305-77713853	GM12878	blood:	n/a	n/a
13	EGR1	chr15:77712346-77712673	K562	blood:	n/a	chr15:77712527-77712541
14	POLR2A	chr15:77711945-77713647	HEK293	kidney:	n/a	n/a
15	TAF1	chr15:77711814-77712929	K562	blood:	n/a	n/a
16	MAZ	chr15:77711447-77713888	GM12878	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
17	POLR2A	chr15:77712021-77712755	Gliobla	brain:	n/a	n/a
18	REST	chr15:77712352-77712665	K562	blood:	n/a	n/a
19	POLR2A	chr15:77712133-77713740	PANC-1	pancreas:	n/a	n/a
20	SIN3AK20	chr15:77711730-77712727	PANC-1	pancreas:	n/a	n/a
21	ETS1	chr15:77712106-77713235	K562	blood:	n/a	chr15:77712978-77712991
22	TAF1	chr15:77712243-77712535	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:77712212-77713799	K562	blood:	n/a	n/a
24	MYC	chr15:77712338-77712460	MCF-7	breast:	n/a	n/a
25	RUNX3	chr15:77711514-77713773	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:77712201-77714043	Raji	blood:	n/a	n/a
27	KAT2A	chr15:77712373-77712486	GM12878	blood:	n/a	n/a
28	JUND	chr15:77711863-77713831	K562	blood:	n/a	chr15:77711921-77711932 chr15:77712726-77712735
29	ELF1	chr15:77711519-77712921	GM12878	blood:	n/a	chr15:77712419-77712428 chr15:77712001-77712013 chr15:77712362-77712371 chr15:77712737-77712749 chr15:77711858-77711867 chr15:77712415-77712427
30	ARID3A	chr15:77712242-77713741	HepG2	liver:	n/a	n/a
31	RUNX3	chr15:77712204-77713788	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:77712129-77713802	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr15:77711455-77713966	Hela-S3	cervix:	n/a	chr15:77711545-77711555
34	POLR2A	chr15:77710728-77713515	IMR90	lung:	n/a	n/a
35	POLR2A	chr15:77711409-77713847	HepG2	liver:	n/a	n/a
36	IRF1	chr15:77712283-77713757	K562	blood:	n/a	chr15:77712757-77712771 chr15:77712728-77712737 chr15:77712739-77712753 chr15:77713527-77713536
37	BCLAF1	chr15:77712133-77712658	GM12878	blood:	n/a	chr15:77712416-77712429 chr15:77712364-77712373 chr15:77712418-77712427 chr15:77712415-77712428 chr15:77712419-77712432
38	MAZ	chr15:77711446-77713738	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
39	POLR2A	chr15:77712101-77713746	K562	blood:	n/a	n/a
40	POLR2A	chr15:77712124-77712758	K562	blood:	n/a	n/a
41	CTCF	chr15:77712396-77712401	NHEK	skin:	n/a	n/a
42	ZBTB7A	chr15:77711340-77712620	ECC-1	luminal epithelium:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
43	HEY1	chr15:77712127-77713938	K562	blood:	n/a	chr15:77712412-77712427 chr15:77712417-77712432
44	BACH1	chr15:77711849-77713447	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr15:77712369-77713462	MCF10A-Er-Src	breast:	n/a	chr15:77712740-77712750
46	POLR2A	chr15:77712207-77713797	K562	blood:	n/a	n/a
47	USF2	chr15:77712326-77712408	H1-hESC	embryonic stem cell:	n/a	chr15:77712356-77712372
48	MXI1	chr15:77712355-77712468	K562	blood:	n/a	n/a
49	E2F4	chr15:77712353-77713453	K562	blood:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
50	POLR2A	chr15:77712241-77712599	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77712169..77712890-chr9:130213150..130214053,2	Hela-S3	cervix:
2	chr15:77712321..77714990-chr15:77817270..77818791,2	MCF-7	breast:
3	chr15:77712194..77712871-chr16:2826650..2827468,2	Hela-S3	cervix:
4	chr15:77712015..77714153-chr15:77749765..77751911,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PEAK1.1-1	chr15:77712348-77712556	XLOC_011535
2	lnc-PEAK1.1-1	chr15:77712348-77712530	XLOC_011535
3	lnc-PEAK1.1-1	chr15:77712348-77712518	XLOC_011535
4	lnc-PEAK1.1-1	chr15:77712348-77712446	NONHSAT047430
5	lnc-PEAK1.1-1	chr15:77712348-77712436	NONHSAT047432
6	lnc-PEAK1.1-1	chr15:77712348-77712442	NONHSAT047427

Variant related genes	Relation type
HMG20A	TF binding region
ENSG00000259362	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000103363	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000140382	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3422226	chr15:77710922-77713870	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
7	esv3327387	chr15:77711172-77713620	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv3373572	chr15:77711697-77713495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr15:77709600-77712600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:77709600-77713800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:77710200-77713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr15:77710200-77714400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:77710200-77714400	Active TSS	Right Atrium	heart
6	chr15:77710400-77713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:77710400-77714400	Active TSS	Right Ventricle	heart
8	chr15:77710400-77714400	Active TSS	NHDF-Ad	bronchial
9	chr15:77710400-77714600	Active TSS	NHLF	lung
10	chr15:77710600-77713600	Active TSS	HSMMtube	muscle
11	chr15:77710600-77713800	Active TSS	Colon Smooth Muscle	Colon
12	chr15:77710600-77713800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr15:77710600-77714200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:77710600-77714200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:77710600-77714600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:77710800-77713600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:77710800-77713600	Active TSS	Fetal Kidney	kidney
18	chr15:77710800-77713600	Active TSS	Placenta	Placenta
19	chr15:77710800-77713800	Active TSS	Duodenum Mucosa	Duodenum
20	chr15:77710800-77714000	Active TSS	Colonic Mucosa	Colon
21	chr15:77710800-77714000	Active TSS	Left Ventricle	heart
22	chr15:77710800-77714200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:77710800-77714200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:77710800-77714200	Active TSS	Fetal Muscle Trunk	muscle
25	chr15:77710800-77714200	Active TSS	Psoas Muscle	Psoas
26	chr15:77710800-77714600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:77711000-77713600	Active TSS	Fetal Muscle Leg	muscle
28	chr15:77711000-77713800	Active TSS	Fetal Stomach	stomach
29	chr15:77711000-77713800	Active TSS	Osteobl	bone
30	chr15:77711000-77714000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:77711000-77714000	Active TSS	Lung	lung
32	chr15:77711000-77714000	Active TSS	Ovary	ovary
33	chr15:77711000-77714000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr15:77711000-77714200	Active TSS	Aorta	Aorta
35	chr15:77711000-77714400	Active TSS	Stomach Smooth Muscle	stomach
36	chr15:77711000-77714800	Active TSS	K562	blood
37	chr15:77711200-77713400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:77711200-77713600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:77711200-77713600	Active TSS	Brain Substantia Nigra	brain
40	chr15:77711200-77713600	Active TSS	Fetal Lung	lung
41	chr15:77711200-77713600	Active TSS	HUVEC	blood vessel
42	chr15:77711200-77713600	Active TSS	NH-A	brain
43	chr15:77711200-77713800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:77711200-77713800	Active TSS	Brain Angular Gyrus	brain
45	chr15:77711200-77713800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:77711200-77714000	Bivalent/Poised TSS	HepG2	liver
47	chr15:77711200-77714200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:77711200-77714200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr15:77711200-77714200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:77711200-77714400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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