Variant report

Variant	rs572649584
Chromosome Location	chr15:59730705-59730706
allele	G/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	USF1	chr15:59730404-59730728	A549	lung:	n/a	chr15:59730612-59730623 chr15:59730413-59730429 chr15:59730405-59730421
2	MYC	chr15:59729645-59731187	A549	lung:	n/a	chr15:59730613-59730623
3	USF1	chr15:59730493-59730797	A549	lung:	n/a	chr15:59730612-59730623
4	MYC	chr15:59730594-59730775	H1-hESC	embryonic stem cell:	n/a	chr15:59730613-59730623
5	MAX	chr15:59729592-59730944	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
6	SIN3AK20	chr15:59730508-59730948	A549	lung:	n/a	n/a
7	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
8	CTCF	chr15:59730560-59730710	GM12865	blood:	n/a	n/a
9	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
10	MAX	chr15:59730512-59730758	NB4	blood:	n/a	chr15:59730613-59730623
11	MYC	chr15:59730579-59730712	MCF-7	breast:	n/a	chr15:59730613-59730623
12	TCF12	chr15:59729916-59731004	ECC-1	luminal epithelium:	n/a	chr15:59730751-59730761
13	SIN3AK20	chr15:59730380-59730771	PANC-1	pancreas:	n/a	n/a
14	CTCF	chr15:59730560-59730710	GM12874	blood:	n/a	n/a
15	SMC3	chr15:59729990-59730814	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr15:59730560-59730710	GM12873	blood:	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	POLR2A	chr15:59730312-59730738	GM12878	blood:	n/a	n/a
19	NRF1	chr15:59729911-59730733	SK-N-SH	brain:	n/a	chr15:59730077-59730086
20	ELF1	chr15:59729987-59730921	GM12878	blood:	n/a	chr15:59730258-59730267 chr15:59730413-59730425
21	USF1	chr15:59730390-59730867	ECC-1	luminal epithelium:	n/a	chr15:59730612-59730623 chr15:59730413-59730429 chr15:59730405-59730421
22	MAX	chr15:59730384-59730868	MCF-7	breast:	n/a	chr15:59730613-59730623
23	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
24	USF2	chr15:59730513-59730903	Hela-S3	cervix:	n/a	chr15:59730612-59730623
25	POLR2A	chr15:59730122-59730838	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr15:59729985-59730761	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr15:59729991-59730920	Hela-S3	cervix:	n/a	n/a
28	USF1	chr15:59730434-59730793	A549	lung:	n/a	chr15:59730612-59730623
29	USF1	chr15:59730423-59730845	SK-N-SH	brain:	n/a	chr15:59730612-59730623
30	CREB1	chr15:59730004-59730722	A549	lung:	n/a	n/a
31	MXI1	chr15:59730044-59730814	Hela-S3	cervix:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
32	GTF2F1	chr15:59730630-59730836	Hela-S3	cervix:	n/a	n/a
33	MYC	chr15:59730644-59730726	GM12878	blood:	n/a	n/a
34	EBF1	chr15:59730527-59730849	GM12878	blood:	n/a	n/a
35	MAX	chr15:59730048-59730880	HepG2	liver:	n/a	chr15:59730613-59730623
36	E2F6	chr15:59730356-59730998	H1-hESC	embryonic stem cell:	n/a	chr15:59730703-59730713 chr15:59730699-59730707 chr15:59730699-59730707 chr15:59730694-59730709 chr15:59730698-59730708 chr15:59730432-59730441
37	MAX	chr15:59730454-59731023	H1-hESC	embryonic stem cell:	n/a	chr15:59730613-59730623
38	USF1	chr15:59730439-59730881	ECC-1	luminal epithelium:	n/a	chr15:59730612-59730623
39	REST	chr15:59729594-59730960	H1-neurons	neurons:	n/a	n/a
40	USF1	chr15:59730468-59730795	GM12878	blood:	n/a	chr15:59730612-59730623
41	POLR2A	chr15:59730008-59730758	A549	lung:	n/a	n/a
42	USF1	chr15:59730467-59730814	SK-N-SH_RA	brain:	n/a	chr15:59730612-59730623
43	POLR2A	chr15:59730252-59730783	GM18951	blood:	n/a	n/a
44	USF1	chr15:59730535-59730709	HepG2	liver:	n/a	chr15:59730612-59730623
45	SIN3A	chr15:59729615-59730930	H1-hESC	embryonic stem cell:	n/a	chr15:59730406-59730419 chr15:59730407-59730416 chr15:59730522-59730533
46	MAX	chr15:59730470-59730880	MCF-7	breast:	n/a	chr15:59730613-59730623
47	SMARCB1	chr15:59729699-59730903	Hela-S3	cervix:	n/a	n/a
48	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
49	MAX	chr15:59730517-59730827	H1-hESC	embryonic stem cell:	n/a	chr15:59730613-59730623
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59730655-59730705	GM12892	blood:	n/a
2	chr15:59730655-59730705	HAEpiC	amniotic membrane:	n/a
3	chr15:59730655-59730705	GM19239	blood:	n/a
4	chr15:59730655-59730705	NB4	blood:	n/a
5	chr15:59730655-59730705	RPTEC	kidney:	n/a
6	chr15:59730655-59730705	HEEpiC	esophagus:	n/a
7	chr15:59730655-59730705	AG04450	lung:	fetal
8	chr15:59730655-59730705	HCM	heart:	n/a
9	chr15:59730655-59730705	A549	lung:	n/a
10	chr15:59730655-59730705	HMEC	breast:	n/a
11	chr15:59730655-59730705	SKMC	muscle:	n/a
12	chr15:59730655-59730705	AG04449	skin:	fetal
13	chr15:59730655-59730705	GM12878	blood:	n/a
14	chr15:59730655-59730705	GM12891	blood:	n/a
15	chr15:59730655-59730705	SK-N-MC	brain:	n/a
16	chr15:59730655-59730705	Jurkat	blood:	n/a
17	chr15:59730655-59730705	HepG2	liver:	n/a
18	chr15:59730655-59730705	MCF-7	breast:	n/a
19	chr15:59730655-59730705	ProgFib	skin:	n/a
20	chr15:59730655-59730705	NT2-D1	testis:	n/a
21	chr15:59730655-59730705	AG09309	skin:	n/a
22	chr15:59730655-59730705	Hela-S3	cervix:	n/a
23	chr15:59730655-59730705	PrEC	prostate:	n/a
24	chr15:59730655-59730705	Caco-2	colon:	n/a
25	chr15:59730655-59730705	HRE	kidney:	n/a
26	chr15:59730655-59730705	ECC-1	luminal epithelium:	n/a
27	chr15:59730655-59730705	SK-N-SH_RA	brain:	n/a
28	chr15:59730655-59730705	HRCEpiC	kidney:	n/a
29	chr15:59730655-59730705	HCPEpiC	choroid plexus:	n/a
30	chr15:59730655-59730705	HRPEpiC	eye:	n/a
31	chr15:59730655-59730705	CMK	blood:	n/a
32	chr15:59730655-59730705	HCT-116	colon:	n/a
33	chr15:59730655-59730705	K562	blood:	n/a
34	chr15:59730655-59730705	Hepatocyte	liver:	n/a
35	chr15:59730655-59730705	BJ	skin:	n/a
36	chr15:59730655-59730705	LNCaP	prostate:	n/a
37	chr15:59730655-59730705	IMR90	lung:	fetal
38	chr15:59730655-59730705	GM06990	blood:	n/a
39	chr15:59730655-59730705	AoSMC	blood vessel:	n/a
40	chr15:59730655-59730705	T-47D	breast:	n/a
41	chr15:59730655-59730705	AG09319	gingival:	n/a
42	chr15:59730655-59730705	PANC-1	pancreas:	n/a
43	chr15:59730655-59730705	SK-N-SH	brain:	n/a
44	chr15:59730655-59730705	BE2_C	brain:	n/a
45	chr15:59730655-59730705	HCF	heart:	n/a
46	chr15:59730655-59730705	H1-hESC	embryonic stem cell:	embryo
47	chr15:59730655-59730705	HUVEC	blood vessel:	n/a
48	chr15:59730655-59730705	PFSK-1	brain:	n/a
49	chr15:59730655-59730705	HL-60	blood:	n/a
50	chr15:59730655-59730705	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59729967..59730762-chr5:32174477..32175354,2	Hela-S3	cervix:
2	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:
3	chr12:56511004..56511984-chr15:59730326..59730914,2	Hela-S3	cervix:

Variant related genes	Relation type
FAM81A	TF binding region
FAM81A	CpG island
ENSG00000272086	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000157483	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:124 , 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	chr15:59729400-59730800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:59729400-59730800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr15:59729400-59731000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr15:59729400-59731000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:59729400-59731800	Active TSS	Brain Angular Gyrus	brain
12	chr15:59729600-59731000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:59729600-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:59729600-59731600	Active TSS	Fetal Brain Female	brain
15	chr15:59729800-59730800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr15:59729800-59730800	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr15:59729800-59730800	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr15:59729800-59731000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:59729800-59731000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr15:59729800-59731200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:59730000-59730800	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr15:59730000-59730800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr15:59730000-59730800	Active TSS	Brain Substantia Nigra	brain
24	chr15:59730000-59730800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr15:59730000-59730800	Active TSS	Psoas Muscle	Psoas
26	chr15:59730000-59730800	Active TSS	Hela-S3	cervix
27	chr15:59730000-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:59730000-59731000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr15:59730000-59731000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:59730000-59731000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:59730000-59731000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr15:59730000-59731000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr15:59730000-59731000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:59730000-59731000	Active TSS	Esophagus	oesophagus
35	chr15:59730000-59731000	Active TSS	Gastric	stomach
36	chr15:59730000-59731000	Active TSS	Ovary	ovary
37	chr15:59730000-59731000	Active TSS	A549	lung
38	chr15:59730000-59731000	Active TSS	HSMMtube	muscle
39	chr15:59730000-59731200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr15:59730000-59731200	Active TSS	Brain Cingulate Gyrus	brain
41	chr15:59730000-59731200	Active TSS	Colon Smooth Muscle	Colon
42	chr15:59730000-59731200	Active TSS	Fetal Brain Male	brain
43	chr15:59730000-59731200	Active TSS	Rectal Smooth Muscle	rectum
44	chr15:59730200-59730800	Enhancers	Fetal Heart	heart
45	chr15:59730200-59730800	Active TSS	Spleen	Spleen
46	chr15:59730200-59730800	Active TSS	GM12878-XiMat	blood
47	chr15:59730200-59730800	Bivalent/Poised TSS	Osteobl	bone
48	chr15:59730200-59731000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:59730200-59731000	Bivalent/Poised TSS	NHLF	lung
50	chr15:59730200-59731200	Enhancers	Liver	Liver

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