Variant report

Variant	rs538100949
Chromosome Location	chr15:79104068-79104069
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	chr15:79103875-79104126	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr15:79103437-79104281	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr15:79104000-79104150	GM12869	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
4	CTCF	chr15:79104000-79104150	HCFaa	heart:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
5	CTCF	chr15:79103931-79104198	GM20000	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
6	CTCFL	chr15:79103880-79104096	K562	blood:	n/a	chr15:79104011-79104020
7	CREB1	chr15:79103875-79104119	A549	lung:	n/a	n/a
8	YY1	chr15:79103868-79104105	HCT-116	colon:	n/a	chr15:79104017-79104031
9	IRF1	chr15:79103718-79104171	K562	blood:	n/a	chr15:79103734-79103748
10	UBTF	chr15:79103514-79104136	K562	blood:	n/a	n/a
11	CTCF	chr15:79103980-79104130	SAEC	small airway:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
12	CTCF	chr15:79103960-79104110	SK-N-SH_RA	brain:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
13	CTCF	chr15:79103960-79104110	MCF-7	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
14	CTCF	chr15:79103963-79104164	Kidney_OC	kidney:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
15	CTCF	chr15:79103980-79104130	AG09309	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
16	CTCF	chr15:79103980-79104130	Caco-2	colon:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
17	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
18	MAX	chr15:79103830-79104173	NB4	blood:	n/a	n/a
19	RAD21	chr15:79103895-79104118	K562	blood:	n/a	chr15:79104007-79104026 chr15:79104011-79104021
20	CTCF	chr15:79103911-79104174	Gliobla	brain:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
21	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
22	CTCF	chr15:79103980-79104130	GM12878	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
23	CTCF	chr15:79103912-79104153	Fibrobl	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
24	CTCF	chr15:79103920-79104070	GM12870	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
25	POLR2A	chr15:79103868-79104121	HCT-116	colon:	n/a	n/a
26	JUND	chr15:79104020-79104140	K562	blood:	n/a	n/a
27	MAX	chr15:79102496-79104404	A549	lung:	n/a	n/a
28	CTCF	chr15:79103901-79104182	K562	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
29	EP300	chr15:79103909-79104217	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr15:79103940-79104090	NHEK	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
31	ZBTB7A	chr15:79102553-79104354	ECC-1	luminal epithelium:	n/a	chr15:79104207-79104215 chr15:79104010-79104019
32	CTCF	chr15:79103980-79104130	AG10803	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
33	CTCF	chr15:79103980-79104130	HMEC	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
34	CTCF	chr15:79103980-79104130	BJ	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
35	POLR2A	chr15:79103914-79104204	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr15:79103830-79104398	IMR90	lung:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
37	CTCF	chr15:79104020-79104170	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr15:79103980-79104130	HA-sp	spinal cord:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
39	CTCF	chr15:79104000-79104150	GM12867	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
40	CTCF	chr15:79103886-79104302	GM12892	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
41	ZNF143	chr15:79103950-79104150	K562	blood:	n/a	chr15:79104020-79104030 chr15:79103954-79103964
42	POLR2A	chr15:79102406-79104140	H1-neurons	neurons:	n/a	n/a
43	CTCF	chr15:79103838-79104109	T-47D	breast:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
44	JUN	chr15:79103660-79104085	K562	blood:	n/a	n/a
45	CTCF	chr15:79104000-79104150	AG10803	skin:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
46	POLR2A	chr15:79103518-79104206	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr15:79103908-79104171	Medullo	brain:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
48	CTCF	chr15:79103960-79104110	GM12865	blood:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
49	CTCF	chr15:79103960-79104110	WERI-Rb-1	eye:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026
50	CTCF	chr15:79104000-79104150	HEK293	kidney:	n/a	chr15:79104011-79104024 chr15:79104004-79104025 chr15:79104009-79104027 chr15:79104011-79104024 chr15:79104014-79104027 chr15:79104010-79104026

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	chr15:79102200-79104200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:79102200-79104200	Active TSS	Left Ventricle	heart
8	chr15:79102200-79104200	Active TSS	Osteobl	bone
9	chr15:79102400-79104200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:79102400-79104200	Active TSS	Fetal Kidney	kidney
11	chr15:79102400-79104200	Active TSS	Right Ventricle	heart
12	chr15:79102400-79104200	Active TSS	HSMM	muscle
13	chr15:79102400-79104200	Active TSS	NHDF-Ad	bronchial
14	chr15:79102400-79104400	Active TSS	Aorta	Aorta
15	chr15:79102400-79104600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:79102600-79104200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:79102600-79104200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr15:79102600-79104200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:79102600-79104200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:79102600-79104200	Active TSS	Brain Substantia Nigra	brain
21	chr15:79102600-79104200	Active TSS	Colon Smooth Muscle	Colon
22	chr15:79102600-79104200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr15:79102600-79104200	Active TSS	Fetal Lung	lung
24	chr15:79102600-79104200	Active TSS	Ovary	ovary
25	chr15:79102600-79104400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:79102600-79104400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:79102600-79104400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr15:79102800-79104200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:79102800-79104200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr15:79102800-79104200	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:79102800-79104200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:79102800-79104200	Bivalent/Poised TSS	HepG2	liver
33	chr15:79102800-79104400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr15:79102800-79104400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr15:79102800-79104400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr15:79102800-79104600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr15:79102800-79104600	Active TSS	Gastric	stomach
38	chr15:79102800-79104800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr15:79103000-79104200	Active TSS	Brain Angular Gyrus	brain
40	chr15:79103000-79104200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr15:79103000-79104600	Active TSS	Psoas Muscle	Psoas
42	chr15:79103200-79104200	Active TSS	Brain Anterior Caudate	brain
43	chr15:79103200-79104200	Active TSS	Brain Cingulate Gyrus	brain
44	chr15:79103200-79104200	Active TSS	GM12878-XiMat	blood
45	chr15:79103200-79104400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:79103200-79104400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr15:79103200-79104400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:79103200-79104400	Active TSS	K562	blood
49	chr15:79103200-79104400	Bivalent/Poised TSS	NHEK	skin
50	chr15:79103400-79104200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion

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