Variant report

Variant	rs184096565
Chromosome Location	chr15:59730097-59730098
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	RAD21	chr15:59729974-59730247	Hela-S3	cervix:	n/a	n/a
2	MYC	chr15:59729645-59731187	A549	lung:	n/a	chr15:59730613-59730623
3	MAX	chr15:59729592-59730944	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
4	MXI1	chr15:59730043-59730390	HepG2	liver:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
5	ELK1	chr15:59730065-59730265	GM12878	blood:	n/a	n/a
6	ELK1	chr15:59730045-59730360	Hela-S3	cervix:	n/a	n/a
7	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
8	MTA3	chr15:59729471-59730302	GM12878	blood:	n/a	n/a
9	CTCF	chr15:59729960-59730110	HCM	heart:	n/a	n/a
10	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
11	RFX5	chr15:59730057-59730291	GM12878	blood:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
12	TCF12	chr15:59729916-59731004	ECC-1	luminal epithelium:	n/a	chr15:59730751-59730761
13	RAD21	chr15:59730011-59730196	IMR90	lung:	n/a	n/a
14	E2F4	chr15:59730033-59730286	MCF10A-Er-Src	breast:	n/a	chr15:59730077-59730086
15	SMC3	chr15:59729990-59730814	Hela-S3	cervix:	n/a	n/a
16	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
17	NRF1	chr15:59729911-59730733	SK-N-SH	brain:	n/a	chr15:59730077-59730086
18	ELF1	chr15:59729987-59730921	GM12878	blood:	n/a	chr15:59730258-59730267 chr15:59730413-59730425
19	POLR2A	chr15:59730066-59730272	A549	lung:	n/a	n/a
20	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
21	CTCF	chr15:59730060-59730210	HUVEC	blood vessel:	n/a	n/a
22	RFX5	chr15:59729938-59730685	Hela-S3	cervix:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
23	NFIC	chr15:59729878-59730385	ECC-1	luminal epithelium:	n/a	n/a
24	CHD2	chr15:59729985-59730761	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr15:59729991-59730920	Hela-S3	cervix:	n/a	n/a
26	RUNX3	chr15:59729918-59730327	GM12878	blood:	n/a	n/a
27	RFX5	chr15:59729766-59730491	IMR90	lung:	n/a	chr15:59730226-59730241 chr15:59730228-59730243 chr15:59730226-59730241 chr15:59730226-59730241
28	MXI1	chr15:59729728-59730313	H1-hESC	embryonic stem cell:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
29	CTCF	chr15:59730000-59730150	BJ	skin:	n/a	n/a
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	MAX	chr15:59730048-59730880	HepG2	liver:	n/a	chr15:59730613-59730623
33	REST	chr15:59729594-59730960	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr15:59730008-59730758	A549	lung:	n/a	n/a
35	EBF1	chr15:59730066-59730291	GM12878	blood:	n/a	n/a
36	SIN3A	chr15:59729615-59730930	H1-hESC	embryonic stem cell:	n/a	chr15:59730406-59730419 chr15:59730407-59730416 chr15:59730522-59730533
37	CEBPB	chr15:59730031-59730175	H1-hESC	embryonic stem cell:	n/a	n/a
38	SMARCB1	chr15:59729699-59730903	Hela-S3	cervix:	n/a	n/a
39	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
40	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
41	POLR2A	chr15:59729874-59730635	H1-neurons	neurons:	n/a	n/a
42	MAZ	chr15:59730046-59730266	GM12878	blood:	n/a	n/a
43	MAZ	chr15:59729968-59730820	Hela-S3	cervix:	n/a	n/a
44	MAX	chr15:59729757-59731017	A549	lung:	n/a	chr15:59730613-59730623
45	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
46	POLR2A	chr15:59729893-59730391	H1-neurons	neurons:	n/a	n/a
47	TCF12	chr15:59730056-59730277	GM12878	blood:	n/a	n/a
48	E2F6	chr15:59729970-59730871	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
49	ESR1	chr15:59729935-59730354	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr15:59730002-59730886	H1-hESC	embryonic stem cell:	n/a	chr15:59730613-59730623

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59730071-59730121	AG09309	skin:	n/a
2	chr15:59730071-59730121	PANC-1	pancreas:	n/a
3	chr15:59730071-59730121	HRCEpiC	kidney:	n/a
4	chr15:59730071-59730121	PFSK-1	brain:	n/a
5	chr15:59730071-59730121	HIPEpiC	eye:	n/a
6	chr15:59730071-59730121	HAEpiC	amniotic membrane:	n/a
7	chr15:59730071-59730121	GM19239	blood:	n/a
8	chr15:59730071-59730121	MCF-7	breast:	n/a
9	chr15:59730071-59730121	A549	lung:	n/a
10	chr15:59730071-59730121	K562	blood:	n/a
11	chr15:59730071-59730121	PrEC	prostate:	n/a
12	chr15:59730071-59730121	GM12878	blood:	n/a
13	chr15:59730071-59730121	GM12892	blood:	n/a
14	chr15:59730071-59730121	HCT-116	colon:	n/a
15	chr15:59730071-59730121	HRE	kidney:	n/a
16	chr15:59730071-59730121	NT2-D1	testis:	n/a
17	chr15:59730071-59730121	U87	brain:	n/a
18	chr15:59730071-59730121	RPTEC	kidney:	n/a
19	chr15:59730071-59730121	GM12891	blood:	n/a
20	chr15:59730071-59730121	HepG2	liver:	n/a
21	chr15:59730071-59730121	Hepatocyte	liver:	n/a
22	chr15:59730071-59730121	Jurkat	blood:	n/a
23	chr15:59730071-59730121	IMR90	lung:	fetal
24	chr15:59730071-59730121	LNCaP	prostate:	n/a
25	chr15:59730071-59730121	HL-60	blood:	n/a
26	chr15:59730071-59730121	NB4	blood:	n/a
27	chr15:59730071-59730121	ovcar-3	ovarian:	n/a
28	chr15:59730071-59730121	HCM	heart:	n/a
29	chr15:59730071-59730121	BJ	skin:	n/a
30	chr15:59730071-59730121	HRPEpiC	eye:	n/a
31	chr15:59730071-59730121	HEEpiC	esophagus:	n/a
32	chr15:59730071-59730121	ProgFib	skin:	n/a
33	chr15:59730071-59730121	AG10803	skin:	n/a
34	chr15:59730071-59730121	ECC-1	luminal epithelium:	n/a
35	chr15:59730071-59730121	Hela-S3	cervix:	n/a
36	chr15:59730071-59730121	H1-hESC	embryonic stem cell:	embryo
37	chr15:59730071-59730121	AG04449	skin:	fetal
38	chr15:59730071-59730121	NHDF-neo	bronchial:	n/a
39	chr15:59730071-59730121	HPAEpiC	pulmonary alveolar:	n/a
40	chr15:59730071-59730121	SK-N-MC	brain:	n/a
41	chr15:59730071-59730121	HCF	heart:	n/a
42	chr15:59730071-59730121	Caco-2	colon:	n/a
43	chr15:59730071-59730121	AG04450	lung:	fetal
44	chr15:59730071-59730121	T-47D	breast:	n/a
45	chr15:59730071-59730121	NH-A	brain:	n/a
46	chr15:59730071-59730121	GM06990	blood:	n/a
47	chr15:59730071-59730121	AG09319	gingival:	n/a
48	chr15:59730071-59730121	HCPEpiC	choroid plexus:	n/a
49	chr15:59730071-59730121	MCF10A-Er-Src	breast:	n/a
50	chr15:59730071-59730121	SK-N-SH	brain:	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
FAM81A	CpG island
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: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	chr15:59729200-59730200	Flanking Active TSS	GM12878-XiMat	blood
3	chr15:59729200-59730800	Active TSS	Aorta	Aorta
4	chr15:59729200-59730800	Active TSS	Right Atrium	heart
5	chr15:59729200-59731000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:59729200-59731000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:59729200-59731400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
10	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:59729400-59730200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
16	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
17	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr15:59729400-59730200	Flanking Bivalent TSS/Enh	NHEK	skin
20	chr15:59729400-59730600	Active TSS	Left Ventricle	heart
21	chr15:59729400-59730800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:59729400-59730800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr15:59729400-59731000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr15:59729400-59731000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:59729400-59731800	Active TSS	Brain Angular Gyrus	brain
26	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
38	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	NHLF	lung
39	chr15:59729600-59730200	Flanking Bivalent TSS/Enh	Osteobl	bone
40	chr15:59729600-59730600	Active TSS	Brain Anterior Caudate	brain
41	chr15:59729600-59730600	Active TSS	Brain Germinal Matrix	brain
42	chr15:59729600-59730600	Active TSS	Brain Hippocampus Middle	brain
43	chr15:59729600-59731000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr15:59729600-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:59729600-59731600	Active TSS	Fetal Brain Female	brain
46	chr15:59729800-59730200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr15:59729800-59730200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr15:59729800-59730200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr15:59729800-59730200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:59729800-59730200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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