Variant report

Variant	rs548907714
Chromosome Location	chr15:74045112-74045113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr15:74044521-74045350	ECC-1	luminal epithelium:	n/a	n/a
2	GABPA	chr15:74044827-74045270	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr15:74044621-74045299	H1-hESC	embryonic stem cell:	n/a	chr15:74044971-74044982
4	POLR2A	chr15:74045046-74045549	H1-neurons	neurons:	n/a	n/a
5	MAZ	chr15:74044597-74046256	IMR90	lung:	n/a	chr15:74044619-74044629 chr15:74044615-74044625
6	ZNF263	chr15:74044856-74045150	HEK293-T-REx	kidney:	n/a	n/a
7	ZBTB7A	chr15:74044592-74045458	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:74045033-74045901	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:74045083-74045133	HL-60	blood:	n/a
2	chr15:74045075-74045125	HPAEpiC	pulmonary alveolar:	n/a
3	chr15:74045075-74045125	NB4	blood:	n/a
4	chr15:74045075-74045125	HMEC	breast:	n/a
5	chr15:74045083-74045133	LNCaP	prostate:	n/a
6	chr15:74045075-74045125	CMK	blood:	n/a
7	chr15:74045083-74045133	RPTEC	kidney:	n/a
8	chr15:74045083-74045133	HCF	heart:	n/a
9	chr15:74045083-74045133	K562	blood:	n/a
10	chr15:74045083-74045133	ovcar-3	ovarian:	n/a
11	chr15:74045075-74045125	HCF	heart:	n/a
12	chr15:74045083-74045133	HRPEpiC	eye:	n/a
13	chr15:74045075-74045125	NH-A	brain:	n/a
14	chr15:74045075-74045125	ProgFib	skin:	n/a
15	chr15:74045075-74045125	HepG2	liver:	n/a
16	chr15:74045083-74045133	SK-N-MC	brain:	n/a
17	chr15:74045075-74045125	HUVEC	blood vessel:	n/a
18	chr15:74045075-74045125	Hela-S3	cervix:	n/a
19	chr15:74045075-74045125	AoSMC	blood vessel:	n/a
20	chr15:74045075-74045125	HRPEpiC	eye:	n/a
21	chr15:74045075-74045125	U87	brain:	n/a
22	chr15:74045075-74045125	PrEC	prostate:	n/a
23	chr15:74045075-74045125	NT2-D1	testis:	n/a
24	chr15:74045083-74045133	GM12892	blood:	n/a
25	chr15:74045075-74045125	SK-N-MC	brain:	n/a
26	chr15:74045075-74045125	AG09309	skin:	n/a
27	chr15:74045083-74045133	H1-hESC	embryonic stem cell:	embryo
28	chr15:74045083-74045133	SAEC	small airway:	n/a
29	chr15:74045083-74045133	GM06990	blood:	n/a
30	chr15:74045075-74045125	GM12878	blood:	n/a
31	chr15:74045075-74045125	HRCEpiC	kidney:	n/a
32	chr15:74045075-74045125	LNCaP	prostate:	n/a
33	chr15:74045075-74045125	AG09319	gingival:	n/a
34	chr15:74045083-74045133	Jurkat	blood:	n/a
35	chr15:74045083-74045133	HEEpiC	esophagus:	n/a
36	chr15:74045083-74045133	IMR90	lung:	fetal
37	chr15:74045083-74045133	PFSK-1	brain:	n/a
38	chr15:74045083-74045133	MCF10A-Er-Src	breast:	n/a
39	chr15:74045075-74045125	GM06990	blood:	n/a
40	chr15:74045083-74045133	AG09309	skin:	n/a
41	chr15:74045083-74045133	HCT-116	colon:	n/a
42	chr15:74045083-74045133	NT2-D1	testis:	n/a
43	chr15:74045083-74045133	CMK	blood:	n/a
44	chr15:74045083-74045133	HCM	heart:	n/a
45	chr15:74045075-74045125	BE2_C	brain:	n/a
46	chr15:74045075-74045125	HIPEpiC	eye:	n/a
47	chr15:74045075-74045125	HL-60	blood:	n/a
48	chr15:74045083-74045133	Caco-2	colon:	n/a
49	chr15:74045083-74045133	AG04450	lung:	fetal
50	chr15:74045083-74045133	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
C15orf59	TF binding region
C15orf59	CpG island

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	nsv471252	chr15:74006691-74089793	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv569970	chr15:74016622-74059081	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3421437	chr15:74043924-74046872	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv9813	chr15:74044169-74048692	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv13877	chr15:74044459-74046147	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3418540	chr15:74044749-74046697	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74043200-74046000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:74043400-74045400	Active TSS	Brain Substantia Nigra	brain
3	chr15:74043600-74045200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:74043600-74045400	Active TSS	Brain Cingulate Gyrus	brain
5	chr15:74043600-74045800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr15:74043600-74046000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:74043800-74045200	Active TSS	Fetal Kidney	kidney
8	chr15:74043800-74045400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:74043800-74045800	Active TSS	Right Atrium	heart
10	chr15:74043800-74046000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:74044000-74045400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:74044000-74045400	Active TSS	Brain Angular Gyrus	brain
13	chr15:74044000-74045400	Active TSS	Brain Anterior Caudate	brain
14	chr15:74044000-74045800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:74044000-74045800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:74044000-74045800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:74044000-74045800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:74044000-74046000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr15:74044000-74046000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr15:74044000-74046000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:74044000-74046000	Active TSS	Brain Germinal Matrix	brain
22	chr15:74044000-74046000	Active TSS	Fetal Brain Female	brain
23	chr15:74044200-74045200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr15:74044200-74045800	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr15:74044200-74045800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:74044200-74045800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:74044200-74045800	Weak transcription	Fetal Brain Male	brain
28	chr15:74044200-74045800	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr15:74044200-74045800	Active TSS	Left Ventricle	heart
30	chr15:74044200-74045800	Active TSS	Rectal Smooth Muscle	rectum
31	chr15:74044200-74046000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr15:74044200-74046000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:74044200-74046000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:74044200-74046000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr15:74044200-74046000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:74044400-74045200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:74044400-74045200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr15:74044400-74045200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr15:74044400-74045200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:74044400-74045200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:74044400-74045200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:74044400-74045200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:74044400-74045200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr15:74044400-74045200	Bivalent/Poised TSS	Esophagus	oesophagus
45	chr15:74044400-74045200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
46	chr15:74044400-74045400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:74044400-74045400	Active TSS	A549	lung
48	chr15:74044400-74045600	Bivalent/Poised TSS	Thymus	Thymus
49	chr15:74044400-74045600	Bivalent/Poised TSS	NHEK	skin
50	chr15:74044400-74045800	Active TSS	Aorta	Aorta

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