Variant report

Variant	rs79927508
Chromosome Location	chr15:77712967-77712968
allele	A/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	IRF4	chr15:77712895-77713550	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:77712253-77713835	K562	blood:	n/a	n/a
3	POLR2A	chr15:77711788-77714120	GM12878	blood:	n/a	n/a
4	RFX5	chr15:77712697-77713173	HepG2	liver:	n/a	chr15:77712727-77712736
5	HA-E2F1	chr15:77712181-77713312	MCF-7	breast:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
6	WRNIP1	chr15:77712862-77714012	GM12878	blood:	n/a	n/a
7	SP1	chr15:77712410-77713740	A549	lung:	n/a	chr15:77712740-77712750 chr15:77712758-77712768 chr15:77712736-77712750 chr15:77712759-77712768 chr15:77713483-77713497 chr15:77712758-77712768 chr15:77713487-77713496 chr15:77712754-77712768 chr15:77712757-77712769 chr15:77712758-77712767 chr15:77712741-77712750 chr15:77712759-77712768 chr15:77712677-77712691 chr15:77712739-77712751 chr15:77712757-77712769 chr15:77712740-77712749 chr15:77712739-77712751
8	CEBPB	chr15:77712815-77713284	K562	blood:	n/a	n/a
9	ZC3H11A	chr15:77712922-77713422	K562	blood:	n/a	n/a
10	TBL1XR1	chr15:77712795-77714025	GM12878	blood:	n/a	n/a
11	NFIC	chr15:77712788-77713644	HepG2	liver:	n/a	n/a
12	E2F6	chr15:77711687-77713457	K562	blood:	n/a	chr15:77712417-77712427 chr15:77712728-77712737
13	YY1	chr15:77712833-77713749	ECC-1	luminal epithelium:	n/a	chr15:77713487-77713498
14	POLR2A	chr15:77711874-77713573	HUVEC	blood vessel:	n/a	n/a
15	TCF12	chr15:77712738-77713709	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr15:77712300-77714065	GM12878	blood:	n/a	n/a
17	TAF1	chr15:77712189-77713746	GM12878	blood:	n/a	n/a
18	MYC	chr15:77712920-77713291	K562	blood:	n/a	n/a
19	SP1	chr15:77712641-77713247	H1-hESC	embryonic stem cell:	n/a	chr15:77712740-77712750 chr15:77712758-77712768 chr15:77712736-77712750 chr15:77712759-77712768 chr15:77712758-77712768 chr15:77712754-77712768 chr15:77712757-77712769 chr15:77712758-77712767 chr15:77712741-77712750 chr15:77712759-77712768 chr15:77712677-77712691 chr15:77712739-77712751 chr15:77712757-77712769 chr15:77712740-77712749 chr15:77712739-77712751
20	CREB1	chr15:77712203-77713918	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr15:77712838-77713455	K562	blood:	n/a	n/a
22	MAX	chr15:77712380-77713797	MCF-7	breast:	n/a	chr15:77712740-77712750
23	CHD2	chr15:77712305-77713853	GM12878	blood:	n/a	n/a
24	MAFK	chr15:77712787-77713857	Hela-S3	cervix:	n/a	n/a
25	SIX5	chr15:77712814-77713334	K562	blood:	n/a	chr15:77712981-77712990 chr15:77712976-77712985 chr15:77712977-77712991 chr15:77712979-77712988
26	SMC3	chr15:77712898-77713262	HepG2	liver:	n/a	n/a
27	ARID3A	chr15:77712764-77713860	K562	blood:	n/a	n/a
28	POLR2A	chr15:77711945-77713647	HEK293	kidney:	n/a	n/a
29	TRIM28	chr15:77712798-77713305	K562	blood:	n/a	n/a
30	POU2F2	chr15:77712806-77713494	GM12878	blood:	n/a	n/a
31	MAZ	chr15:77711447-77713888	GM12878	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
32	PBX3	chr15:77712829-77713576	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr15:77712133-77713740	PANC-1	pancreas:	n/a	n/a
34	EP300	chr15:77712831-77713885	GM12878	blood:	n/a	chr15:77712859-77712868 chr15:77712932-77712946 chr15:77713477-77713484
35	FOXM1	chr15:77712804-77713659	GM12878	blood:	n/a	n/a
36	GABPA	chr15:77712640-77713996	A549	lung:	n/a	n/a
37	YY1	chr15:77712720-77713673	A549	lung:	n/a	chr15:77712764-77712775 chr15:77713487-77713498
38	ETS1	chr15:77712106-77713235	K562	blood:	n/a	chr15:77712978-77712991
39	POLR2A	chr15:77712212-77713799	K562	blood:	n/a	n/a
40	RUNX3	chr15:77711514-77713773	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:77712201-77714043	Raji	blood:	n/a	n/a
42	JUND	chr15:77711863-77713831	K562	blood:	n/a	chr15:77711921-77711932 chr15:77712726-77712735
43	ARID3A	chr15:77712242-77713741	HepG2	liver:	n/a	n/a
44	CREB1	chr15:77712821-77713398	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr15:77712916-77713505	U87	brain:	n/a	n/a
46	CUX1	chr15:77712770-77713396	K562	blood:	n/a	n/a
47	FOXM1	chr15:77712786-77713855	GM12878	blood:	n/a	n/a
48	FOSL2	chr15:77712654-77713856	A549	lung:	n/a	chr15:77713839-77713850 chr15:77712726-77712735
49	SP4	chr15:77712887-77713675	H1-hESC	embryonic stem cell:	n/a	n/a
50	RUNX3	chr15:77712204-77713788	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77712321..77714990-chr15:77817270..77818791,2	MCF-7	breast:
2	chr15:77195486..77197689-chr15:77712877..77715018,2	K562	blood:
3	chr14:76618214..76618918-chr15:77712733..77713513,2	Hela-S3	cervix:
4	chr15:77712015..77714153-chr15:77749765..77751911,2	MCF-7	breast:

Variant related genes	Relation type
PEAK1	TF binding region
HMG20A	TF binding region
ENSG00000259362	Chromatin interaction
ENSG00000089916	Chromatin interaction
ENSG00000140382	Chromatin interaction
ENSG00000140386	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv2146133	chr15:77712967-77712968	Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 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	chr15:77709600-77713800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:77710200-77713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:77710200-77714400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:77710200-77714400	Active TSS	Right Atrium	heart
5	chr15:77710400-77713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:77710400-77714400	Active TSS	Right Ventricle	heart
7	chr15:77710400-77714400	Active TSS	NHDF-Ad	bronchial
8	chr15:77710400-77714600	Active TSS	NHLF	lung
9	chr15:77710600-77713600	Active TSS	HSMMtube	muscle
10	chr15:77710600-77713800	Active TSS	Colon Smooth Muscle	Colon
11	chr15:77710600-77713800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr15:77710600-77714200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr15:77710600-77714200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:77710600-77714600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:77710800-77713600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:77710800-77713600	Active TSS	Fetal Kidney	kidney
17	chr15:77710800-77713600	Active TSS	Placenta	Placenta
18	chr15:77710800-77713800	Active TSS	Duodenum Mucosa	Duodenum
19	chr15:77710800-77714000	Active TSS	Colonic Mucosa	Colon
20	chr15:77710800-77714000	Active TSS	Left Ventricle	heart
21	chr15:77710800-77714200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:77710800-77714200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:77710800-77714200	Active TSS	Fetal Muscle Trunk	muscle
24	chr15:77710800-77714200	Active TSS	Psoas Muscle	Psoas
25	chr15:77710800-77714600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:77711000-77713600	Active TSS	Fetal Muscle Leg	muscle
27	chr15:77711000-77713800	Active TSS	Fetal Stomach	stomach
28	chr15:77711000-77713800	Active TSS	Osteobl	bone
29	chr15:77711000-77714000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:77711000-77714000	Active TSS	Lung	lung
31	chr15:77711000-77714000	Active TSS	Ovary	ovary
32	chr15:77711000-77714000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr15:77711000-77714200	Active TSS	Aorta	Aorta
34	chr15:77711000-77714400	Active TSS	Stomach Smooth Muscle	stomach
35	chr15:77711000-77714800	Active TSS	K562	blood
36	chr15:77711200-77713400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:77711200-77713600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:77711200-77713600	Active TSS	Brain Substantia Nigra	brain
39	chr15:77711200-77713600	Active TSS	Fetal Lung	lung
40	chr15:77711200-77713600	Active TSS	HUVEC	blood vessel
41	chr15:77711200-77713600	Active TSS	NH-A	brain
42	chr15:77711200-77713800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:77711200-77713800	Active TSS	Brain Angular Gyrus	brain
44	chr15:77711200-77713800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:77711200-77714000	Bivalent/Poised TSS	HepG2	liver
46	chr15:77711200-77714200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:77711200-77714200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr15:77711200-77714200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr15:77711200-77714400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:77711200-77714400	Active TSS	Rectal Mucosa Donor 31	rectum

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