Variant report

Variant	rs572808464
Chromosome Location	chr15:59729807-59729808
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	MYC	chr15:59729645-59731187	A549	lung:	n/a	chr15:59730613-59730623
2	MAX	chr15:59729592-59730944	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
3	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
4	MTA3	chr15:59729471-59730302	GM12878	blood:	n/a	n/a
5	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
6	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
7	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
8	RFX5	chr15:59729766-59730491	IMR90	lung:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
9	MXI1	chr15:59729728-59730313	H1-hESC	embryonic stem cell:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
10	REST	chr15:59729594-59730960	H1-neurons	neurons:	n/a	n/a
11	SIN3A	chr15:59729615-59730930	H1-hESC	embryonic stem cell:	n/a	chr15:59730406-59730419 chr15:59730407-59730416 chr15:59730522-59730533
12	SMARCB1	chr15:59729699-59730903	Hela-S3	cervix:	n/a	n/a
13	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
14	MAX	chr15:59729757-59731017	A549	lung:	n/a	chr15:59730613-59730623
15	MAX	chr15:59729726-59729978	H1-hESC	embryonic stem cell:	n/a	n/a
16	HA-E2F1	chr15:59729622-59730862	Hela-S3	cervix:	n/a	chr15:59730703-59730713 chr15:59730699-59730707 chr15:59730077-59730086 chr15:59730699-59730707 chr15:59730698-59730708 chr15:59730432-59730441
17	STAT5A	chr15:59729758-59730205	GM12878	blood:	n/a	chr15:59729903-59729915
18	TCF12	chr15:59729741-59730279	A549	lung:	n/a	n/a
19	ZEB1	chr15:59729371-59729933	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59729760-59729810	NHDF-neo	bronchial:	n/a
2	chr15:59729760-59729810	HUVEC	blood vessel:	n/a
3	chr15:59729760-59729810	GM06990	blood:	n/a
4	chr15:59729760-59729810	AG04449	skin:	fetal
5	chr15:59729760-59729810	AG04450	lung:	fetal
6	chr15:59729760-59729810	NT2-D1	testis:	n/a
7	chr15:59729760-59729810	HEEpiC	esophagus:	n/a
8	chr15:59729760-59729810	IMR90	lung:	fetal
9	chr15:59729760-59729810	AG09309	skin:	n/a
10	chr15:59729760-59729810	SK-N-SH	brain:	n/a
11	chr15:59729760-59729810	SKMC	muscle:	n/a
12	chr15:59729760-59729810	AG09319	gingival:	n/a
13	chr15:59729760-59729810	T-47D	breast:	n/a
14	chr15:59729760-59729810	BJ	skin:	n/a
15	chr15:59729760-59729810	PFSK-1	brain:	n/a
16	chr15:59729760-59729810	Jurkat	blood:	n/a
17	chr15:59729760-59729810	HRPEpiC	eye:	n/a
18	chr15:59729760-59729810	HCM	heart:	n/a
19	chr15:59729760-59729810	PrEC	prostate:	n/a
20	chr15:59729760-59729810	SK-N-MC	brain:	n/a
21	chr15:59729760-59729810	AG10803	skin:	n/a
22	chr15:59729760-59729810	Hepatocyte	liver:	n/a
23	chr15:59729760-59729810	HNPCEpiC	eye:	n/a
24	chr15:59729760-59729810	CMK	blood:	n/a
25	chr15:59729760-59729810	HIPEpiC	eye:	n/a
26	chr15:59729760-59729810	MCF10A-Er-Src	breast:	n/a
27	chr15:59729760-59729810	NHBE	bronchial:	n/a
28	chr15:59729760-59729810	SAEC	small airway:	n/a
29	chr15:59729760-59729810	NB4	blood:	n/a
30	chr15:59729760-59729810	HL-60	blood:	n/a
31	chr15:59729760-59729810	HPAEpiC	pulmonary alveolar:	n/a
32	chr15:59729760-59729810	BE2_C	brain:	n/a
33	chr15:59729760-59729810	GM12878	blood:	n/a
34	chr15:59729760-59729810	SK-N-SH_RA	brain:	n/a
35	chr15:59729760-59729810	U87	brain:	n/a
36	chr15:59729760-59729810	AoSMC	blood vessel:	n/a
37	chr15:59729760-59729810	MCF-7	breast:	n/a
38	chr15:59729760-59729810	PANC-1	pancreas:	n/a
39	chr15:59729760-59729810	HRCEpiC	kidney:	n/a
40	chr15:59729760-59729810	H1-hESC	embryonic stem cell:	embryo
41	chr15:59729760-59729810	GM12891	blood:	n/a
42	chr15:59729760-59729810	NH-A	brain:	n/a
43	chr15:59729760-59729810	HEK293	kidney:	embryo
44	chr15:59729760-59729810	RPTEC	kidney:	n/a
45	chr15:59729760-59729810	Caco-2	colon:	n/a
46	chr15:59729760-59729810	K562	blood:	n/a
47	chr15:59729760-59729810	HepG2	liver:	n/a
48	chr15:59729760-59729810	GM12892	blood:	n/a
49	chr15:59729760-59729810	HAEpiC	amniotic membrane:	n/a
50	chr15:59729760-59729810	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:

Variant related genes	Relation type
FAM81A	TF binding region
FAM81A	CpG island
ENSG00000157483	Chromatin interaction
ENSG00000157470	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:125 , 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	chr15:59729000-59730000	Enhancers	Spleen	Spleen
3	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr15:59729200-59730000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:59729200-59730000	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr15:59729200-59730000	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr15:59729200-59730000	Flanking Active TSS	Fetal Brain Male	brain
10	chr15:59729200-59730000	Flanking Active TSS	Right Ventricle	heart
11	chr15:59729200-59730000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr15:59729200-59730000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:59729200-59730200	Flanking Active TSS	GM12878-XiMat	blood
14	chr15:59729200-59730800	Active TSS	Aorta	Aorta
15	chr15:59729200-59730800	Active TSS	Right Atrium	heart
16	chr15:59729200-59731000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr15:59729200-59731000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr15:59729200-59731400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:59729400-59730000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr15:59729400-59730000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:59729400-59730000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:59729400-59730000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:59729400-59730000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr15:59729400-59730000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:59729400-59730000	Flanking Active TSS	Fetal Heart	heart
26	chr15:59729400-59730000	Enhancers	Lung	lung
27	chr15:59729400-59730000	Flanking Active TSS	Ovary	ovary
28	chr15:59729400-59730000	Flanking Active TSS	Psoas Muscle	Psoas
29	chr15:59729400-59730000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr15:59729400-59730000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:59729400-59730000	Enhancers	Small Intestine	intestine
32	chr15:59729400-59730000	Flanking Active TSS	A549	lung
33	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:59729400-59730200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
42	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr15:59729400-59730600	Active TSS	Left Ventricle	heart
46	chr15:59729400-59730800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:59729400-59730800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr15:59729400-59731000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr15:59729400-59731000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:59729400-59731800	Active TSS	Brain Angular Gyrus	brain

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