Variant report

Variant	rs570983650
Chromosome Location	chr15:59730263-59730264
allele	A/G
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	chr15:59730228-59730604	ECC-1	luminal epithelium:	n/a	n/a
2	SIN3AK20	chr15:59730140-59730302	HepG2	liver:	n/a	n/a
3	MYC	chr15:59729645-59731187	A549	lung:	n/a	chr15:59730613-59730623
4	MAX	chr15:59729592-59730944	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
5	MXI1	chr15:59730043-59730390	HepG2	liver:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
6	ELK1	chr15:59730065-59730265	GM12878	blood:	n/a	n/a
7	ELK1	chr15:59730045-59730360	Hela-S3	cervix:	n/a	n/a
8	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
9	MTA3	chr15:59729471-59730302	GM12878	blood:	n/a	n/a
10	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
11	NFYB	chr15:59730259-59730610	GM12878	blood:	n/a	n/a
12	RFX5	chr15:59730057-59730291	GM12878	blood:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
13	E2F6	chr15:59730223-59730394	K562	blood:	n/a	n/a
14	TCF12	chr15:59729916-59731004	ECC-1	luminal epithelium:	n/a	chr15:59730751-59730761
15	E2F4	chr15:59730033-59730286	MCF10A-Er-Src	breast:	n/a	chr15:59730077-59730086
16	SMC3	chr15:59729990-59730814	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr15:59729701-59731015	A549	lung:	n/a	chr15:59730703-59730713 chr15:59730699-59730707 chr15:59730077-59730086 chr15:59730699-59730707 chr15:59730694-59730709 chr15:59730698-59730708 chr15:59730432-59730441
18	NRF1	chr15:59729911-59730733	SK-N-SH	brain:	n/a	chr15:59730077-59730086
19	ELF1	chr15:59729987-59730921	GM12878	blood:	n/a	chr15:59730258-59730267 chr15:59730413-59730425
20	POLR2A	chr15:59730066-59730272	A549	lung:	n/a	n/a
21	HA-E2F1	chr15:59729796-59730925	MCF-7	breast:	n/a	chr15:59730703-59730713 chr15:59730699-59730707 chr15:59730077-59730086 chr15:59730699-59730707 chr15:59730698-59730708 chr15:59730432-59730441
22	POLR2A	chr15:59730122-59730838	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr15:59729938-59730685	Hela-S3	cervix:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
24	MAX	chr15:59730102-59730271	NB4	blood:	n/a	n/a
25	NFIC	chr15:59729878-59730385	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr15:59730172-59730269	Spleen_OC	spleen:	n/a	n/a
27	CHD2	chr15:59729985-59730761	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr15:59729991-59730920	Hela-S3	cervix:	n/a	n/a
29	RUNX3	chr15:59729918-59730327	GM12878	blood:	n/a	n/a
30	RFX5	chr15:59729766-59730491	IMR90	lung:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
31	MXI1	chr15:59729728-59730313	H1-hESC	embryonic stem cell:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
32	POLR2A	chr15:59730184-59730567	Gliobla	brain:	n/a	n/a
33	CREB1	chr15:59730004-59730722	A549	lung:	n/a	n/a
34	MXI1	chr15:59730044-59730814	Hela-S3	cervix:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
35	MAX	chr15:59730048-59730880	HepG2	liver:	n/a	chr15:59730613-59730623
36	REST	chr15:59729594-59730960	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr15:59730008-59730758	A549	lung:	n/a	n/a
38	EBF1	chr15:59730066-59730291	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:59730252-59730783	GM18951	blood:	n/a	n/a
40	SIN3A	chr15:59729615-59730930	H1-hESC	embryonic stem cell:	n/a	chr15:59730406-59730419 chr15:59730407-59730416 chr15:59730522-59730533
41	SMARCB1	chr15:59729699-59730903	Hela-S3	cervix:	n/a	n/a
42	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
43	E2F6	chr15:59730091-59730899	Hela-S3	cervix:	n/a	chr15:59730703-59730713 chr15:59730699-59730707 chr15:59730699-59730707 chr15:59730694-59730709 chr15:59730698-59730708 chr15:59730432-59730441
44	POLR2A	chr15:59729874-59730635	H1-neurons	neurons:	n/a	n/a
45	MAZ	chr15:59730046-59730266	GM12878	blood:	n/a	n/a
46	MAZ	chr15:59729968-59730820	Hela-S3	cervix:	n/a	n/a
47	MAX	chr15:59729757-59731017	A549	lung:	n/a	chr15:59730613-59730623
48	MXI1	chr15:59730111-59730668	IMR90	lung:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
49	YY1	chr15:59729851-59730604	GM12878	blood:	n/a	chr15:59730411-59730425 chr15:59729902-59729913 chr15:59730176-59730190 chr15:59730176-59730185 chr15:59730178-59730187 chr15:59730504-59730518 chr15:59730522-59730533 chr15:59730405-59730419 chr15:59730418-59730432
50	POLR2A	chr15:59729893-59730391	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59729967..59730762-chr5:32174477..32175354,2	Hela-S3	cervix:
2	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:

Variant related genes	Relation type
FAM81A	TF binding region
ENSG00000157483	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000272086	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	nsv904278	chr15:59705005-59784648	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv569604	chr15:59729257-59730930	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv21135	chr15:59729524-59730974	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59728800-59731800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr15:59729200-59730800	Active TSS	Aorta	Aorta
3	chr15:59729200-59730800	Active TSS	Right Atrium	heart
4	chr15:59729200-59731000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr15:59729200-59731000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:59729200-59731400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:59729400-59730600	Active TSS	Left Ventricle	heart
8	chr15:59729400-59730800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:59729400-59730800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
10	chr15:59729400-59731000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr15:59729400-59731000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:59729400-59731800	Active TSS	Brain Angular Gyrus	brain
13	chr15:59729600-59730600	Active TSS	Brain Anterior Caudate	brain
14	chr15:59729600-59730600	Active TSS	Brain Germinal Matrix	brain
15	chr15:59729600-59730600	Active TSS	Brain Hippocampus Middle	brain
16	chr15:59729600-59731000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:59729600-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:59729600-59731600	Active TSS	Fetal Brain Female	brain
19	chr15:59729800-59730600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:59729800-59730600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:59729800-59730800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr15:59729800-59730800	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr15:59729800-59730800	Flanking Bivalent TSS/Enh	Thymus	Thymus
24	chr15:59729800-59731000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:59729800-59731000	Flanking Active TSS	Colonic Mucosa	Colon
26	chr15:59729800-59731200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:59730000-59730400	Active TSS	Right Ventricle	heart
28	chr15:59730000-59730600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr15:59730000-59730600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:59730000-59730600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:59730000-59730600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:59730000-59730600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:59730000-59730600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:59730000-59730600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:59730000-59730600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:59730000-59730600	Active TSS	Primary B cells from peripheral blood	blood
37	chr15:59730000-59730600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:59730000-59730600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr15:59730000-59730600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:59730000-59730600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:59730000-59730600	Active TSS	Duodenum Mucosa	Duodenum
42	chr15:59730000-59730600	Active TSS	Placenta	Placenta
43	chr15:59730000-59730600	Active TSS	Pancreas	Pancrea
44	chr15:59730000-59730600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:59730000-59730600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr15:59730000-59730600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:59730000-59730600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:59730000-59730600	Active TSS	Small Intestine	intestine
49	chr15:59730000-59730600	Active TSS	Stomach Smooth Muscle	stomach
50	chr15:59730000-59730600	Active TSS	HSMM	muscle

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