Variant report

Variant	rs555819023
Chromosome Location	chr15:79103770-79103771
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	chr15:79103437-79104281	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:79103517-79103776	A549	lung:	n/a	n/a
3	IRF1	chr15:79103718-79104171	K562	blood:	n/a	chr15:79103734-79103748
4	UBTF	chr15:79103514-79104136	K562	blood:	n/a	n/a
5	CTCF	chr15:79103727-79104258	MCF-7	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
6	CTCF	chr15:79102454-79104826	SK-N-SH	brain:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79102942-79102951 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79102942-79102955 chr15:79104014-79104027 chr15:79104010-79104026
7	MAX	chr15:79102496-79104404	A549	lung:	n/a	n/a
8	ZBTB7A	chr15:79102553-79104354	ECC-1	luminal epithelium:	n/a	chr15:79104207-79104215 chr15:79104010-79104019
9	POLR2A	chr15:79103523-79103835	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:79102406-79104140	H1-neurons	neurons:	n/a	n/a
11	JUN	chr15:79103660-79104085	K562	blood:	n/a	n/a
12	POLR2A	chr15:79103518-79104206	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr15:79103545-79103839	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:79103514-79103836	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr15:79103456-79103841	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:79103602-79103867	HCT-116	colon:	n/a	n/a
17	GABPA	chr15:79103419-79103772	H1-hESC	embryonic stem cell:	n/a	chr15:79103590-79103599
18	POLR2A	chr15:79103457-79104058	A549	lung:	n/a	n/a
19	POLR2A	chr15:79103567-79104180	H1-neurons	neurons:	n/a	n/a
20	HMGN3	chr15:79103239-79104462	K562	blood:	n/a	n/a
21	POLR2A	chr15:79103541-79103793	ECC-1	luminal epithelium:	n/a	n/a
22	ZBTB7A	chr15:79102710-79104356	ECC-1	luminal epithelium:	n/a	chr15:79104207-79104215 chr15:79104010-79104019
23	MAX	chr15:79103446-79103800	K562	blood:	n/a	n/a
24	CTCF	chr15:79103737-79104375	HCT-116	colon:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
25	TBP	chr15:79103386-79103835	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:79103259-79103977	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:79103494-79103826	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr15:79103594-79104200	K562	blood:	n/a	n/a
29	MAZ	chr15:79103592-79104431	K562	blood:	n/a	n/a
30	POLR2A	chr15:79103541-79103820	HCT-116	colon:	n/a	n/a
31	MAX	chr15:79103441-79104225	MCF-7	breast:	n/a	n/a
32	MXI1	chr15:79102514-79104214	IMR90	lung:	n/a	n/a
33	RAD21	chr15:79103755-79104249	ECC-1	luminal epithelium:	n/a	chr15:79104007-79104026 chr15:79104011-79104021
34	MAX	chr15:79102616-79104204	A549	lung:	n/a	n/a
35	REST	chr15:79102183-79104345	H1-neurons	neurons:	n/a	chr15:79103670-79103680 chr15:79103965-79103975 chr15:79102977-79102987 chr15:79103141-79103154
36	CTCF	chr15:79103725-79104401	HCT-116	colon:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
37	MXI1	chr15:79103485-79103789	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP1	chr15:79103521-79104304	A549	lung:	n/a	chr15:79103737-79103746 chr15:79103738-79103747 chr15:79103736-79103748 chr15:79103736-79103748
39	UBTF	chr15:79102675-79104253	K562	blood:	n/a	n/a
40	POLR2A	chr15:79103444-79104104	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr15:79103497-79104147	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr15:79103656-79104679	A549	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
43	TAF1	chr15:79103576-79103843	PFSK-1	brain:	n/a	n/a
44	SIN3A	chr15:79102418-79103906	H1-hESC	embryonic stem cell:	n/a	chr15:79103433-79103444 chr15:79102945-79102958 chr15:79103670-79103679
45	POLR2A	chr15:79103405-79104246	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr15:79102557-79103852	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr15:79103395-79104466	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr15:79102556-79103831	IMR90	lung:	n/a	n/a
49	POLR2A	chr15:79103721-79103790	ProgFib	skin:	n/a	n/a
50	POLR2A	chr15:79103517-79104152	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79103753-79103803	CMK	blood:	n/a
2	chr15:79103753-79103803	ECC-1	luminal epithelium:	n/a
3	chr15:79103753-79103803	PFSK-1	brain:	n/a
4	chr15:79103753-79103803	Caco-2	colon:	n/a
5	chr15:79103753-79103803	HEK293	kidney:	embryo
6	chr15:79103753-79103803	A549	lung:	n/a
7	chr15:79103753-79103803	AG09309	skin:	n/a
8	chr15:79103753-79103803	MCF10A-Er-Src	breast:	n/a
9	chr15:79103753-79103803	HCM	heart:	n/a
10	chr15:79103753-79103803	SKMC	muscle:	n/a
11	chr15:79103753-79103803	NB4	blood:	n/a
12	chr15:79103753-79103803	PANC-1	pancreas:	n/a
13	chr15:79103753-79103803	AG04449	skin:	fetal
14	chr15:79103753-79103803	AG09319	gingival:	n/a
15	chr15:79103753-79103803	HCT-116	colon:	n/a
16	chr15:79103753-79103803	Hepatocyte	liver:	n/a
17	chr15:79103753-79103803	SAEC	small airway:	n/a
18	chr15:79103753-79103803	IMR90	lung:	fetal
19	chr15:79103753-79103803	AG04450	lung:	fetal
20	chr15:79103753-79103803	NHBE	bronchial:	n/a
21	chr15:79103753-79103803	Hela-S3	cervix:	n/a
22	chr15:79103753-79103803	K562	blood:	n/a
23	chr15:79103753-79103803	MCF-7	breast:	n/a
24	chr15:79103753-79103803	HRPEpiC	eye:	n/a
25	chr15:79103753-79103803	T-47D	breast:	n/a
26	chr15:79103753-79103803	HCPEpiC	choroid plexus:	n/a
27	chr15:79103753-79103803	HIPEpiC	eye:	n/a
28	chr15:79103753-79103803	NT2-D1	testis:	n/a
29	chr15:79103753-79103803	HRCEpiC	kidney:	n/a
30	chr15:79103753-79103803	SK-N-SH	brain:	n/a
31	chr15:79103753-79103803	HNPCEpiC	eye:	n/a
32	chr15:79103753-79103803	ovcar-3	ovarian:	n/a
33	chr15:79103753-79103803	HepG2	liver:	n/a
34	chr15:79103753-79103803	GM12892	blood:	n/a
35	chr15:79103753-79103803	BE2_C	brain:	n/a
36	chr15:79103753-79103803	NHDF-neo	bronchial:	n/a
37	chr15:79103753-79103803	H1-hESC	embryonic stem cell:	embryo
38	chr15:79103753-79103803	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:79103753-79103803	AoSMC	blood vessel:	n/a
40	chr15:79103753-79103803	RPTEC	kidney:	n/a
41	chr15:79103753-79103803	LNCaP	prostate:	n/a
42	chr15:79103753-79103803	ProgFib	skin:	n/a
43	chr15:79103753-79103803	GM06990	blood:	n/a
44	chr15:79103753-79103803	U87	brain:	n/a
45	chr15:79103753-79103803	PrEC	prostate:	n/a
46	chr15:79103753-79103803	HAEpiC	amniotic membrane:	n/a
47	chr15:79103753-79103803	AG10803	skin:	n/a
48	chr15:79103753-79103803	BJ	skin:	n/a
49	chr15:79103753-79103803	SK-N-SH_RA	brain:	n/a
50	chr15:79103753-79103803	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79102834..79106085-chr15:79164025..79165931,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTS7	TF binding region
ADAMTS7	CpG island
ENSG00000185787	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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3354433	chr15:79102422-79105270	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3334366	chr15:79102897-79105495	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 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	chr15:79101400-79104200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:79101800-79104200	Active TSS	Right Atrium	heart
3	chr15:79101800-79104400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:79102000-79104200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:79102000-79104200	Active TSS	HSMMtube	muscle
6	chr15:79102200-79104000	Active TSS	NH-A	brain
7	chr15:79102200-79104200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:79102200-79104200	Active TSS	Left Ventricle	heart
9	chr15:79102200-79104200	Active TSS	Osteobl	bone
10	chr15:79102400-79104000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr15:79102400-79104000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr15:79102400-79104200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:79102400-79104200	Active TSS	Fetal Kidney	kidney
14	chr15:79102400-79104200	Active TSS	Right Ventricle	heart
15	chr15:79102400-79104200	Active TSS	HSMM	muscle
16	chr15:79102400-79104200	Active TSS	NHDF-Ad	bronchial
17	chr15:79102400-79104400	Active TSS	Aorta	Aorta
18	chr15:79102400-79104600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:79102600-79103800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:79102600-79103800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:79102600-79103800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:79102600-79103800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:79102600-79104000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:79102600-79104000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:79102600-79104000	Active TSS	Rectal Smooth Muscle	rectum
26	chr15:79102600-79104200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr15:79102600-79104200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:79102600-79104200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:79102600-79104200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:79102600-79104200	Active TSS	Brain Substantia Nigra	brain
31	chr15:79102600-79104200	Active TSS	Colon Smooth Muscle	Colon
32	chr15:79102600-79104200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr15:79102600-79104200	Active TSS	Fetal Lung	lung
34	chr15:79102600-79104200	Active TSS	Ovary	ovary
35	chr15:79102600-79104400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:79102600-79104400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:79102600-79104400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr15:79102800-79103800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:79102800-79104000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr15:79102800-79104000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chr15:79102800-79104000	Active TSS	HUVEC	blood vessel
42	chr15:79102800-79104200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:79102800-79104200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:79102800-79104200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr15:79102800-79104200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:79102800-79104200	Bivalent/Poised TSS	HepG2	liver
47	chr15:79102800-79104400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr15:79102800-79104400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr15:79102800-79104400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:79102800-79104600	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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