Variant report

Variant	rs73446383
Chromosome Location	chr15:74220404-74220405
allele	A/C
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	POLR2A	chr15:74219848-74220898	U87	brain:	n/a	n/a
2	POLR2A	chr15:74219855-74220928	U87	brain:	n/a	n/a
3	CTCF	chr15:74220300-74220450	HCM	heart:	n/a	chr15:74220350-74220366
4	CTCF	chr15:74220380-74220530	HL-60	blood:	n/a	n/a
5	CTCF	chr15:74220280-74220430	HMEC	breast:	n/a	chr15:74220350-74220366
6	CTCF	chr15:74220019-74220481	MCF-7	breast:	n/a	chr15:74220350-74220366
7	SIN3AK20	chr15:74219548-74221127	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:74220260-74220410	Caco-2	colon:	n/a	chr15:74220350-74220366
9	CTCF	chr15:74220063-74220469	Medullo	brain:	n/a	chr15:74220350-74220366
10	CTCF	chr15:74220037-74220511	A549	lung:	n/a	chr15:74220350-74220366
11	CTCF	chr15:74220300-74220450	AG04450	lung:	n/a	chr15:74220350-74220366
12	CTCF	chr15:74220280-74220430	HEEpiC	esophagus:	n/a	chr15:74220350-74220366
13	RAD21	chr15:74219923-74220613	ECC-1	luminal epithelium:	n/a	chr15:74220387-74220397
14	CTCF	chr15:74220160-74220430	HVMF	connective:	n/a	chr15:74220350-74220366
15	ZBTB7A	chr15:74219366-74220638	ECC-1	luminal epithelium:	n/a	chr15:74220350-74220359 chr15:74220286-74220294
16	CTCF	chr15:74220280-74220430	HAc	cerebellar:	n/a	chr15:74220350-74220366
17	MAX	chr15:74218463-74220913	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:74219976-74220515	NHEK	skin:	n/a	chr15:74220350-74220366
19	CTCF	chr15:74220280-74220430	WI-38	lung:	n/a	chr15:74220350-74220366
20	CTCF	chr15:74220300-74220450	HRE	kidney:	n/a	chr15:74220350-74220366
21	CTCF	chr15:74220320-74220470	GM12873	blood:	n/a	chr15:74220350-74220366
22	CTCF	chr15:74219918-74220587	MCF-7	breast:	n/a	chr15:74220350-74220366
23	CTCF	chr15:74220023-74220501	K562	blood:	n/a	chr15:74220350-74220366
24	CTCF	chr15:74220300-74220450	HRPEpiC	eye:	n/a	chr15:74220350-74220366
25	CTCF	chr15:74220260-74220410	AoAF	blood vessel:	n/a	chr15:74220350-74220366
26	CTCF	chr15:74220340-74220490	GM12864	blood:	n/a	chr15:74220350-74220366
27	CTCF	chr15:74220028-74220467	GM19238	blood:	n/a	chr15:74220350-74220366
28	CTCF	chr15:74220032-74220494	GM12892	blood:	n/a	chr15:74220350-74220366
29	EP300	chr15:74219543-74220424	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr15:74219898-74220546	H1-hESC	embryonic stem cell:	n/a	chr15:74220350-74220366
31	CTCF	chr15:74219915-74220535	K562	blood:	n/a	chr15:74220350-74220366
32	CTCF	chr15:74220300-74220450	NHEK	skin:	n/a	chr15:74220350-74220366
33	CTCF	chr15:74219863-74220764	HCT-116	colon:	n/a	chr15:74220699-74220708 chr15:74220350-74220366
34	PML	chr15:74219866-74220457	MCF-7	breast:	n/a	n/a
35	CTCF	chr15:74220280-74220430	AG10803	skin:	n/a	chr15:74220350-74220366
36	CTCF	chr15:74219996-74220454	GM12878	blood:	n/a	chr15:74220350-74220366
37	ZBTB7A	chr15:74219034-74220559	ECC-1	luminal epithelium:	n/a	chr15:74220350-74220359 chr15:74220286-74220294
38	CTCF	chr15:74220296-74220474	HUVEC	blood vessel:	n/a	chr15:74220350-74220366
39	CTCF	chr15:74220320-74220470	HCFaa	heart:	n/a	chr15:74220350-74220366
40	CTCF	chr15:74219998-74220502	MCF-7	breast:	n/a	chr15:74220350-74220366
41	CTCF	chr15:74220042-74220486	Fibrobl	skin:	n/a	chr15:74220350-74220366
42	CTCF	chr15:74220260-74220410	GM12864	blood:	n/a	chr15:74220350-74220366
43	CTCF	chr15:74220260-74220410	Hela-S3	cervix:	n/a	chr15:74220350-74220366
44	CTCF	chr15:74220307-74220469	Kidney_OC	kidney:	n/a	chr15:74220350-74220366
45	MAZ	chr15:74216078-74220816	IMR90	lung:	n/a	n/a
46	NFIC	chr15:74218412-74220406	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr15:74218425-74220724	ProgFib	skin:	n/a	n/a
48	MXI1	chr15:74217976-74222304	IMR90	lung:	n/a	n/a
49	CTCF	chr15:74220074-74220444	GM12878	blood:	n/a	chr15:74220350-74220366
50	CTCF	chr15:74220280-74220430	BJ	skin:	n/a	chr15:74220350-74220366

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72523731..72525453-chr15:74219224..74220936,2	MCF-7	breast:
2	chr15:74163735..74170089-chr15:74218002..74222715,6	MCF-7	breast:

Variant related genes	Relation type
LOXL1-AS1	TF binding region
ENSG00000167139	Chromatin interaction
ENSG00000260624	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12594324	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594472	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1440101	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550439	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16958494	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304721	0.94[ASN][1000 genomes]
rs28603291	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41435250	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58490364	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893815	0.81[AFR][1000 genomes]

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	nsv1043335	chr15:74078689-74241186	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1603	chr15:74191222-74235733	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3324978	chr15:74218524-74221272	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74216800-74220800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr15:74218200-74221200	Active TSS	Aorta	Aorta
3	chr15:74218400-74220600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:74218400-74220800	Flanking Active TSS	HMEC	breast
5	chr15:74218400-74221000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr15:74218400-74221200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:74218400-74221200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr15:74218600-74220600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:74218600-74220600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:74218600-74220600	Active TSS	NHLF	lung
11	chr15:74218600-74220600	Active TSS	Osteobl	bone
12	chr15:74218600-74220800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:74218600-74221000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:74218600-74221200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:74218600-74221200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:74218600-74221200	Active TSS	HSMM	muscle
17	chr15:74218600-74221200	Active TSS	NH-A	brain
18	chr15:74218600-74221200	Active TSS	NHDF-Ad	bronchial
19	chr15:74218600-74221400	Active TSS	HSMMtube	muscle
20	chr15:74218800-74220600	Flanking Active TSS	Pancreas	Pancrea
21	chr15:74218800-74220800	Active TSS	Fetal Kidney	kidney
22	chr15:74218800-74221800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr15:74219000-74220600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:74219000-74220600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr15:74219000-74220600	Active TSS	Fetal Lung	lung
26	chr15:74219000-74220600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr15:74219200-74220600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr15:74219200-74221200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:74219400-74220600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr15:74219400-74220800	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr15:74219600-74220600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:74219800-74220600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:74219800-74220600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:74219800-74220600	Active TSS	Psoas Muscle	Psoas
35	chr15:74219800-74220600	Bivalent/Poised TSS	HUVEC	blood vessel
36	chr15:74220000-74220600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:74220200-74220600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr15:74220200-74220600	Flanking Active TSS	Placenta	Placenta
39	chr15:74220200-74220600	Active TSS	Right Atrium	heart
40	chr15:74220200-74220600	Enhancers	Small Intestine	intestine
41	chr15:74220200-74220600	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr15:74220200-74220800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:74220200-74220800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:74220200-74220800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr15:74220200-74220800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr15:74220200-74220800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:74220200-74220800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:74220200-74220800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:74220200-74220800	Bivalent Enhancer	Brain Hippocampus Middle	brain
50	chr15:74220200-74220800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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