Variant report

Variant	rs538751112
Chromosome Location	chr15:79103599-79103600
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	POLR2A	chr15:79103437-79104281	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:79103517-79103776	A549	lung:	n/a	n/a
3	UBTF	chr15:79103514-79104136	K562	blood:	n/a	n/a
4	E2F6	chr15:79103531-79103756	K562	blood:	n/a	chr15:79103738-79103747
5	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
6	MAX	chr15:79102496-79104404	A549	lung:	n/a	n/a
7	ZBTB7A	chr15:79102553-79104354	ECC-1	luminal epithelium:	n/a	chr15:79104207-79104215 chr15:79104010-79104019
8	GTF2F1	chr15:79103563-79103723	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:79103571-79103725	A549	lung:	n/a	n/a
10	POLR2A	chr15:79103523-79103835	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:79102406-79104140	H1-neurons	neurons:	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	JUND	chr15:79103551-79103755	H1-hESC	embryonic stem cell:	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	MAX	chr15:79102547-79103763	ECC-1	luminal epithelium:	n/a	n/a
23	ZBTB7A	chr15:79102710-79104356	ECC-1	luminal epithelium:	n/a	chr15:79104207-79104215 chr15:79104010-79104019
24	FOXP2	chr15:79103446-79103761	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr15:79103500-79103718	ProgFib	skin:	n/a	n/a
26	MAX	chr15:79103446-79103800	K562	blood:	n/a	n/a
27	TBP	chr15:79103386-79103835	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:79103259-79103977	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr15:79103494-79103826	HUVEC	blood vessel:	n/a	n/a
30	MYC	chr15:79103594-79104200	K562	blood:	n/a	n/a
31	MAZ	chr15:79103592-79104431	K562	blood:	n/a	n/a
32	POLR2A	chr15:79103541-79103820	HCT-116	colon:	n/a	n/a
33	MAX	chr15:79103441-79104225	MCF-7	breast:	n/a	n/a
34	MXI1	chr15:79102514-79104214	IMR90	lung:	n/a	n/a
35	TAF1	chr15:79102864-79103721	H1-neurons	neurons:	n/a	n/a
36	ZBTB7A	chr15:79103451-79103750	K562	blood:	n/a	n/a
37	POLR2A	chr15:79103573-79103769	A549	lung:	n/a	n/a
38	MAX	chr15:79102616-79104204	A549	lung:	n/a	n/a
39	REST	chr15:79102183-79104345	H1-neurons	neurons:	n/a	chr15:79103670-79103680 chr15:79103965-79103975 chr15:79102977-79102987 chr15:79103141-79103154
40	MXI1	chr15:79103485-79103789	H1-hESC	embryonic stem cell:	n/a	n/a
41	SP1	chr15:79103521-79104304	A549	lung:	n/a	chr15:79103737-79103746 chr15:79103738-79103747 chr15:79103736-79103748 chr15:79103736-79103748
42	TCF12	chr15:79102619-79103695	A549	lung:	n/a	chr15:79103213-79103221
43	UBTF	chr15:79102675-79104253	K562	blood:	n/a	n/a
44	POLR2A	chr15:79103444-79104104	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr15:79103497-79104147	ECC-1	luminal epithelium:	n/a	n/a
46	TAF1	chr15:79103576-79103843	PFSK-1	brain:	n/a	n/a
47	SIN3A	chr15:79102418-79103906	H1-hESC	embryonic stem cell:	n/a	chr15:79103433-79103444 chr15:79102945-79102958 chr15:79103670-79103679
48	POLR2A	chr15:79103468-79103767	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:79103405-79104246	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr15:79103508-79103722	H1-hESC	embryonic stem cell:	n/a	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
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:124 , 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	chr15:79102200-79103600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr15:79102200-79104000	Active TSS	NH-A	brain
8	chr15:79102200-79104200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr15:79102200-79104200	Active TSS	Left Ventricle	heart
10	chr15:79102200-79104200	Active TSS	Osteobl	bone
11	chr15:79102400-79103600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:79102400-79103600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:79102400-79103600	Bivalent/Poised TSS	A549	lung
14	chr15:79102400-79104000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr15:79102400-79104000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr15:79102400-79104200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:79102400-79104200	Active TSS	Fetal Kidney	kidney
18	chr15:79102400-79104200	Active TSS	Right Ventricle	heart
19	chr15:79102400-79104200	Active TSS	HSMM	muscle
20	chr15:79102400-79104200	Active TSS	NHDF-Ad	bronchial
21	chr15:79102400-79104400	Active TSS	Aorta	Aorta
22	chr15:79102400-79104600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:79102600-79103600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:79102600-79103600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr15:79102600-79103800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:79102600-79103800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:79102600-79103800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:79102600-79103800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:79102600-79104000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:79102600-79104000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:79102600-79104000	Active TSS	Rectal Smooth Muscle	rectum
32	chr15:79102600-79104200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr15:79102600-79104200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr15:79102600-79104200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:79102600-79104200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:79102600-79104200	Active TSS	Brain Substantia Nigra	brain
37	chr15:79102600-79104200	Active TSS	Colon Smooth Muscle	Colon
38	chr15:79102600-79104200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr15:79102600-79104200	Active TSS	Fetal Lung	lung
40	chr15:79102600-79104200	Active TSS	Ovary	ovary
41	chr15:79102600-79104400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:79102600-79104400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:79102600-79104400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr15:79102800-79103600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr15:79102800-79103600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr15:79102800-79103600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:79102800-79103600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr15:79102800-79103600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr15:79102800-79103600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr15:79102800-79103600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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