Variant report

Variant	rs576396343
Chromosome Location	chr15:59730893-59730894
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	SIN3AK20	chr15:59730508-59730948	A549	lung:	n/a	n/a
4	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
5	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
6	TCF12	chr15:59729916-59731004	ECC-1	luminal epithelium:	n/a	chr15:59730751-59730761
7	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
8	ELF1	chr15:59729987-59730921	GM12878	blood:	n/a	chr15:59730258-59730267 chr15:59730413-59730425
9	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
10	USF2	chr15:59730513-59730903	Hela-S3	cervix:	n/a	chr15:59730612-59730623
11	RCOR1	chr15:59729991-59730920	Hela-S3	cervix:	n/a	n/a
12	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
13	MAX	chr15:59730454-59731023	H1-hESC	embryonic stem cell:	n/a	chr15:59730613-59730623
14	REST	chr15:59729594-59730960	H1-neurons	neurons:	n/a	n/a
15	SIN3A	chr15:59729615-59730930	H1-hESC	embryonic stem cell:	n/a	chr15:59730406-59730419 chr15:59730407-59730416 chr15:59730522-59730533
16	SMARCB1	chr15:59729699-59730903	Hela-S3	cervix:	n/a	n/a
17	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
18	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
19	MAX	chr15:59729757-59731017	A549	lung:	n/a	chr15:59730613-59730623
20	MAX	chr15:59729940-59730899	Hela-S3	cervix:	n/a	chr15:59730613-59730623
21	MTA3	chr15:59730514-59731173	GM12878	blood:	n/a	n/a
22	MAX	chr15:59730017-59730906	HepG2	liver:	n/a	chr15:59730613-59730623
23	ELF1	chr15:59729999-59730906	GM12878	blood:	n/a	chr15:59730258-59730267 chr15:59730413-59730425

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59730852-59730902	HCPEpiC	choroid plexus:	n/a
2	chr15:59730852-59730902	MCF-7	breast:	n/a
3	chr15:59730852-59730902	LNCaP	prostate:	n/a
4	chr15:59730852-59730902	HMEC	breast:	n/a
5	chr15:59730852-59730902	GM06990	blood:	n/a
6	chr15:59730852-59730902	HCT-116	colon:	n/a
7	chr15:59730852-59730902	HNPCEpiC	eye:	n/a
8	chr15:59730852-59730902	BE2_C	brain:	n/a
9	chr15:59730852-59730902	AG09319	gingival:	n/a
10	chr15:59730852-59730902	AG10803	skin:	n/a
11	chr15:59730852-59730902	ProgFib	skin:	n/a
12	chr15:59730852-59730902	T-47D	breast:	n/a
13	chr15:59730852-59730902	HEK293	kidney:	embryo
14	chr15:59730852-59730902	NHDF-neo	bronchial:	n/a
15	chr15:59730852-59730902	HCF	heart:	n/a
16	chr15:59730852-59730902	Caco-2	colon:	n/a
17	chr15:59730852-59730902	NHBE	bronchial:	n/a
18	chr15:59730852-59730902	HCM	heart:	n/a
19	chr15:59730852-59730902	NH-A	brain:	n/a
20	chr15:59730852-59730902	SK-N-MC	brain:	n/a
21	chr15:59730852-59730902	SKMC	muscle:	n/a
22	chr15:59730852-59730902	HepG2	liver:	n/a
23	chr15:59730852-59730902	MCF10A-Er-Src	breast:	n/a
24	chr15:59730852-59730902	AG04449	skin:	fetal
25	chr15:59730852-59730902	K562	blood:	n/a
26	chr15:59730852-59730902	ovcar-3	ovarian:	n/a
27	chr15:59730852-59730902	NB4	blood:	n/a
28	chr15:59730852-59730902	A549	lung:	n/a
29	chr15:59730852-59730902	PANC-1	pancreas:	n/a
30	chr15:59730852-59730902	GM19239	blood:	n/a
31	chr15:59730852-59730902	ECC-1	luminal epithelium:	n/a
32	chr15:59730852-59730902	U87	brain:	n/a
33	chr15:59730852-59730902	AG09309	skin:	n/a
34	chr15:59730852-59730902	SAEC	small airway:	n/a
35	chr15:59730852-59730902	RPTEC	kidney:	n/a
36	chr15:59730852-59730902	PrEC	prostate:	n/a
37	chr15:59730852-59730902	AG04450	lung:	fetal
38	chr15:59730852-59730902	HUVEC	blood vessel:	n/a
39	chr15:59730852-59730902	GM12878	blood:	n/a
40	chr15:59730852-59730902	IMR90	lung:	fetal
41	chr15:59730852-59730902	NT2-D1	testis:	n/a
42	chr15:59730852-59730902	AoSMC	blood vessel:	n/a
43	chr15:59730852-59730902	H1-hESC	embryonic stem cell:	embryo
44	chr15:59730852-59730902	GM12891	blood:	n/a
45	chr15:59730852-59730902	SK-N-SH	brain:	n/a
46	chr15:59730852-59730902	HEEpiC	esophagus:	n/a
47	chr15:59730852-59730902	HRPEpiC	eye:	n/a
48	chr15:59730852-59730902	HAEpiC	amniotic membrane:	n/a
49	chr15:59730852-59730902	GM12892	blood:	n/a
50	chr15:59730852-59730902	HPAEpiC	pulmonary alveolar:	n/a

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

Variant related genes	Relation type
FAM81A	TF binding region
FAM81A	CpG island
ENSG00000157483	Chromatin interaction
ENSG00000135482	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:104 , 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	chr15:59729200-59731000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr15:59729200-59731000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:59729200-59731400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:59729400-59731000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr15:59729400-59731000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:59729400-59731800	Active TSS	Brain Angular Gyrus	brain
8	chr15:59729600-59731000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:59729600-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:59729600-59731600	Active TSS	Fetal Brain Female	brain
11	chr15:59729800-59731000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:59729800-59731000	Flanking Active TSS	Colonic Mucosa	Colon
13	chr15:59729800-59731200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:59730000-59731000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:59730000-59731000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:59730000-59731000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:59730000-59731000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:59730000-59731000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr15:59730000-59731000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr15:59730000-59731000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:59730000-59731000	Active TSS	Esophagus	oesophagus
22	chr15:59730000-59731000	Active TSS	Gastric	stomach
23	chr15:59730000-59731000	Active TSS	Ovary	ovary
24	chr15:59730000-59731000	Active TSS	A549	lung
25	chr15:59730000-59731000	Active TSS	HSMMtube	muscle
26	chr15:59730000-59731200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:59730000-59731200	Active TSS	Brain Cingulate Gyrus	brain
28	chr15:59730000-59731200	Active TSS	Colon Smooth Muscle	Colon
29	chr15:59730000-59731200	Active TSS	Fetal Brain Male	brain
30	chr15:59730000-59731200	Active TSS	Rectal Smooth Muscle	rectum
31	chr15:59730200-59731000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:59730200-59731000	Bivalent/Poised TSS	NHLF	lung
33	chr15:59730200-59731200	Enhancers	Liver	Liver
34	chr15:59730200-59731200	Bivalent Enhancer	NHDF-Ad	bronchial
35	chr15:59730200-59731400	Bivalent/Poised TSS	NH-A	brain
36	chr15:59730400-59731000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr15:59730400-59731000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr15:59730400-59731000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:59730400-59731000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:59730400-59731000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr15:59730400-59731000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr15:59730400-59731200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr15:59730400-59731200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:59730600-59731000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr15:59730600-59731000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:59730600-59731000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:59730600-59731000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:59730600-59731000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr15:59730600-59731000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:59730600-59731000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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