Variant report

Variant	rs565184696
Chromosome Location	chr15:52821079-52821080
allele	A/G
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	YY1	chr15:52820634-52821098	H1-hESC	embryonic stem cell:	n/a	chr15:52820959-52820968 chr15:52820735-52820746 chr15:52821085-52821096
2	PML	chr15:52820218-52821165	MCF-7	breast:	n/a	n/a
3	CTCF	chr15:52820991-52821136	MCF-7	breast:	n/a	n/a
4	TCF12	chr15:52820188-52821276	A549	lung:	n/a	chr15:52821044-52821051 chr15:52820918-52820925
5	RUNX3	chr15:52820864-52821152	GM12878	blood:	n/a	n/a
6	NR2F2	chr15:52820508-52821958	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:52820697-52821708	GM19099	blood:	n/a	n/a
8	CTCF	chr15:52821005-52821148	LNCaP	prostate:	n/a	n/a
9	POLR2A	chr15:52820786-52821610	HCT-116	colon:	n/a	n/a
10	MAX	chr15:52820359-52821613	NB4	blood:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
11	POLR2A	chr15:52820848-52821541	HL-60	blood:	n/a	n/a
12	CTCF	chr15:52821046-52821110	HepG2	liver:	n/a	n/a
13	ZEB1	chr15:52820780-52821571	GM12878	blood:	n/a	n/a
14	RAD21	chr15:52820913-52821155	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr15:52821060-52821210	AG09309	skin:	n/a	chr15:52821179-52821192
16	CTCF	chr15:52820940-52821090	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:52820010-52822087	H1-neurons	neurons:	n/a	n/a
18	MAX	chr15:52820939-52821149	K562	blood:	n/a	chr15:52821025-52821035
19	CTCF	chr15:52820960-52821110	K562	blood:	n/a	n/a
20	CTCF	chr15:52820833-52821250	K562	blood:	n/a	chr15:52821179-52821192
21	FOXP2	chr15:52820950-52821586	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr15:52820844-52821453	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr15:52820697-52821641	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr15:52820947-52821151	GM19239	blood:	n/a	n/a
25	E2F6	chr15:52820830-52821418	K562	blood:	n/a	chr15:52820893-52820905 chr15:52821089-52821099
26	ELF1	chr15:52820335-52821802	GM12878	blood:	n/a	chr15:52820882-52820894 chr15:52821461-52821473 chr15:52821465-52821474 chr15:52821037-52821049
27	ELF1	chr15:52820992-52821124	HepG2	liver:	n/a	chr15:52821037-52821049
28	POLR2A	chr15:52820824-52821516	PFSK-1	brain:	n/a	n/a
29	YY1	chr15:52820819-52821140	HepG2	liver:	n/a	chr15:52820959-52820968 chr15:52821085-52821096 chr15:52821086-52821100
30	CTCF	chr15:52820980-52821130	GM12871	blood:	n/a	n/a
31	CTCF	chr15:52820967-52821103	GM12878	blood:	n/a	n/a
32	YY1	chr15:52820621-52821746	GM12892	blood:	n/a	chr15:52820959-52820968 chr15:52821454-52821468 chr15:52820735-52820746 chr15:52821085-52821096 chr15:52821460-52821474 chr15:52821465-52821474 chr15:52821457-52821471 chr15:52821462-52821471 chr15:52821462-52821473 chr15:52821086-52821100
33	POLR2A	chr15:52820898-52821113	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr15:52820843-52821131	PFSK-1	brain:	n/a	n/a
35	CTCF	chr15:52820960-52821110	BJ	skin:	n/a	n/a
36	RAD21	chr15:52820757-52821543	H1-hESC	embryonic stem cell:	n/a	chr15:52821175-52821188
37	EP300	chr15:52821031-52821527	H1-hESC	embryonic stem cell:	n/a	chr15:52821083-52821099
38	YY1	chr15:52820688-52821561	H1-hESC	embryonic stem cell:	n/a	chr15:52820959-52820968 chr15:52821454-52821468 chr15:52820735-52820746 chr15:52821085-52821096 chr15:52821460-52821474 chr15:52821465-52821474 chr15:52821457-52821471 chr15:52821462-52821471 chr15:52821462-52821473 chr15:52821086-52821100
39	SMC3	chr15:52820946-52821729	GM12878	blood:	n/a	n/a
40	CTCF	chr15:52820995-52821109	NHEK	skin:	n/a	n/a
41	POLR2A	chr15:52820690-52821948	U87	brain:	n/a	n/a
42	CTCF	chr15:52820970-52821144	GM10248	blood:	n/a	n/a
43	MAX	chr15:52820887-52821120	K562	blood:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
44	POLR2A	chr15:52820884-52821418	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:52820886-52821617	GM12878	blood:	n/a	chr15:52821565-52821578 chr15:52821179-52821192
46	POLR2A	chr15:52820801-52821115	A549	lung:	n/a	n/a
47	CTCF	chr15:52820960-52821110	AG04450	lung:	n/a	n/a
48	ETS1	chr15:52820962-52821129	K562	blood:	n/a	n/a
49	POLR2A	chr15:52820800-52821561	PANC-1	pancreas:	n/a	n/a
50	CTCF	chr15:52820980-52821130	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52819283..52821980-chr16:88877332..88878840,2	MCF-7	breast:
2	chr15:52819791..52821534-chr15:52970285..52973265,2	MCF-7	breast:
3	chr15:52584393..52589074-chr15:52819513..52822265,5	MCF-7	breast:
4	chr15:52819294..52821098-chr15:52860363..52863142,2	MCF-7	breast:
5	chr15:52820217..52824623-chr15:52859000..52863588,7	MCF-7	breast:
6	chr15:52820950..52823000-chr15:52846878..52849661,2	MCF-7	breast:
7	chr15:52820917..52821847-chr17:56736116..56736779,3	MCF-7	breast:

Variant related genes	Relation type
MYO5A	TF binding region
ENSG00000128833	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000128989	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3406407	chr15:52820185-52823033	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3444715	chr15:52820360-52822458	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52818400-52822000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:52819400-52822000	Active TSS	Brain Anterior Caudate	brain
3	chr15:52819600-52821600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:52819600-52822000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:52819600-52822000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr15:52819800-52821400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:52819800-52822000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:52819800-52822000	Active TSS	Brain Angular Gyrus	brain
9	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr15:52819800-52822600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:52820000-52821400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:52820000-52821600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:52820000-52821600	Active TSS	Thymus	Thymus
15	chr15:52820000-52821600	Active TSS	HSMMtube	muscle
16	chr15:52820000-52821800	Active TSS	Fetal Brain Female	brain
17	chr15:52820000-52822000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:52820000-52822000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:52820000-52822000	Active TSS	Right Atrium	heart
20	chr15:52820000-52822000	Active TSS	Right Ventricle	heart
21	chr15:52820000-52822200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:52820000-52822200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:52820000-52822400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:52820200-52821400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:52820200-52821400	Active TSS	Pancreas	Pancrea
26	chr15:52820200-52821600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:52820200-52821600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:52820200-52821600	Active TSS	Brain Substantia Nigra	brain
29	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Thymus	thymus
33	chr15:52820200-52821600	Active TSS	HSMM	muscle
34	chr15:52820200-52821800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:52820200-52821800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:52820200-52821800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr15:52820200-52821800	Active TSS	Brain Hippocampus Middle	brain
38	chr15:52820200-52821800	Active TSS	Gastric	stomach
39	chr15:52820200-52821800	Active TSS	A549	lung
40	chr15:52820200-52821800	Active TSS	NHDF-Ad	bronchial
41	chr15:52820200-52822000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:52820200-52822000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:52820200-52822000	Active TSS	Ovary	ovary
44	chr15:52820200-52822200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:52820200-52822200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr15:52820400-52821400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr15:52820400-52821400	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr15:52820400-52821600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:52820400-52821600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:52820400-52821600	Active TSS	Primary B cells from peripheral blood	blood

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