Variant report

Variant	rs1046596
Chromosome Location	chr14:56584561-56584562
allele	C/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	TAF1	chr14:56584559-56584856	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr14:56584317-56584919	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr14:56584461-56584700	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr14:56584420-56584570	HA-sp	spinal cord:	n/a	n/a
5	FOXA2	chr14:56584492-56585193	A549	lung:	n/a	n/a
6	MAX	chr14:56584542-56584822	A549	lung:	n/a	n/a
7	MAZ	chr14:56584116-56586945	IMR90	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407 chr14:56585757-56585767
8	SP1	chr14:56584411-56585033	A549	lung:	n/a	n/a
9	MAX	chr14:56584358-56585450	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
10	BACH1	chr14:56584490-56585294	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr14:56584262-56585701	H1-hESC	embryonic stem cell:	n/a	chr14:56585591-56585604
12	CTCF	chr14:56584480-56584630	GM12867	blood:	n/a	n/a
13	MAX	chr14:56584471-56585258	NB4	blood:	n/a	chr14:56585049-56585059
14	POLR2A	chr14:56584521-56585368	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:56584440-56584590	SAEC	small airway:	n/a	n/a
16	MAX	chr14:56584489-56584866	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:56584487-56585339	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr14:56584196-56584954	A549	lung:	n/a	chr14:56584854-56584863
19	UBTF	chr14:56584503-56585534	K562	blood:	n/a	n/a
20	SMARCB1	chr14:56584322-56586220	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr14:56584480-56584630	AG04449	skin:	n/a	n/a
22	RCOR1	chr14:56584536-56585191	Hela-S3	cervix:	n/a	n/a
23	FOXA2	chr14:56584435-56585403	A549	lung:	n/a	n/a
24	SPI1	chr14:56584513-56584938	HL-60	blood:	n/a	chr14:56584650-56584657 chr14:56584647-56584660
25	RAD21	chr14:56584331-56584813	H1-hESC	embryonic stem cell:	n/a	chr14:56584507-56584521
26	MXI1	chr14:56584118-56587663	IMR90	lung:	n/a	n/a
27	CREB1	chr14:56584394-56585341	A549	lung:	n/a	n/a
28	MAX	chr14:56584483-56584910	K562	blood:	n/a	n/a
29	TBP	chr14:56584386-56585340	H1-hESC	embryonic stem cell:	n/a	chr14:56584820-56584831
30	CTCF	chr14:56584520-56584670	BJ	skin:	n/a	n/a
31	MAX	chr14:56584283-56584943	MCF-7	breast:	n/a	chr14:56584397-56584407
32	MAZ	chr14:56584463-56585652	Hela-S3	cervix:	n/a	chr14:56585049-56585059
33	RCOR1	chr14:56584452-56585252	K562	blood:	n/a	n/a
34	MAX	chr14:56584499-56585399	ECC-1	luminal epithelium:	n/a	chr14:56585049-56585059
35	MAZ	chr14:56584369-56585754	K562	blood:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
36	CTCF	chr14:56584380-56584630	AG09319	gingival:	n/a	n/a
37	POLR2A	chr14:56584545-56584737	Hela-S3	cervix:	n/a	n/a
38	GTF2F1	chr14:56584533-56584786	Hela-S3	cervix:	n/a	n/a
39	CTBP2	chr14:56584489-56586565	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr14:56584216-56586831	H1-neurons	neurons:	n/a	chr14:56585213-56585231 chr14:56586193-56586206 chr14:56585663-56585672
41	MAX	chr14:56584327-56584947	H1-hESC	embryonic stem cell:	n/a	chr14:56584397-56584407
42	MAX	chr14:56584372-56585346	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
43	RFX5	chr14:56584545-56584965	Hela-S3	cervix:	n/a	n/a
44	E2F6	chr14:56584432-56585039	A549	lung:	n/a	n/a
45	RAD21	chr14:56584391-56586415	H1-hESC	embryonic stem cell:	n/a	chr14:56584507-56584521
46	CTCF	chr14:56584520-56584670	WERI-Rb-1	eye:	n/a	n/a
47	POLR2A	chr14:56584543-56584760	MCF-7	breast:	n/a	n/a
48	SMC3	chr14:56584456-56585245	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr14:56584520-56584670	NHDF-neo	bronchial:	n/a	n/a
50	BHLHE40	chr14:56584494-56585224	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:

Variant related genes	Relation type
PELI2	TF binding region
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10140006	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1041075	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873093	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs171339	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010895	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241513	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241514	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241521	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241522	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241549	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241551	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241552	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241554	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241556	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241558	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241561	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs241562	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs241564	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3186565	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850294	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850295	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4901637	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61526546	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7150067	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156007	0.84[EUR][1000 genomes]
rs7157298	0.84[EUR][1000 genomes]
rs8004543	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3401883	chr14:56584049-56586947	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3343418	chr14:56584224-56586772	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56582200-56584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:56582600-56584600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr14:56583000-56584800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr14:56583200-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:56583400-56587600	Active TSS	Ovary	ovary
6	chr14:56583800-56584600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr14:56583800-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:56583800-56587400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:56584000-56584600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:56584000-56584600	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr14:56584000-56584600	Flanking Active TSS	Fetal Brain Female	brain
12	chr14:56584000-56584800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:56584000-56584800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr14:56584000-56584800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:56584000-56584800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:56584000-56586200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:56584000-56586400	Active TSS	A549	lung
18	chr14:56584000-56586600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr14:56584000-56586800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:56584000-56587000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:56584000-56587200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:56584000-56587200	Active TSS	Stomach Smooth Muscle	stomach
23	chr14:56584000-56587400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:56584000-56587400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:56584000-56587600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:56584200-56584600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:56584200-56584600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:56584200-56584600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:56584200-56584600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr14:56584200-56584600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:56584200-56584600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:56584200-56584600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr14:56584200-56584600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:56584200-56584600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:56584200-56584600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr14:56584200-56584600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr14:56584200-56584600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr14:56584200-56584600	Bivalent Enhancer	Fetal Heart	heart
39	chr14:56584200-56584600	Flanking Active TSS	Fetal Lung	lung
40	chr14:56584200-56584600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr14:56584200-56584600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr14:56584200-56584600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:56584200-56584600	Flanking Active TSS	Stomach Mucosa	stomach
44	chr14:56584200-56584600	Flanking Active TSS	Hela-S3	cervix
45	chr14:56584200-56584600	Bivalent/Poised TSS	HSMMtube	muscle
46	chr14:56584200-56584800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr14:56584200-56584800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr14:56584200-56584800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:56584200-56584800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:56584200-56584800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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