Variant report

Variant	rs570615849
Chromosome Location	chr15:52821543-52821544
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	NR2F2	chr15:52820508-52821958	MCF-7	breast:	n/a	n/a
2	POLR2A	chr15:52820697-52821708	GM19099	blood:	n/a	n/a
3	POLR2A	chr15:52820786-52821610	HCT-116	colon:	n/a	n/a
4	MAX	chr15:52820359-52821613	NB4	blood:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
5	ZEB1	chr15:52820780-52821571	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:52820010-52822087	H1-neurons	neurons:	n/a	n/a
7	FOXP2	chr15:52820950-52821586	PFSK-1	brain:	n/a	n/a
8	STAT5A	chr15:52821471-52821886	GM12878	blood:	n/a	chr15:52821680-52821703
9	POLR2A	chr15:52820697-52821641	HUVEC	blood vessel:	n/a	n/a
10	ELF1	chr15:52820335-52821802	GM12878	blood:	n/a	chr15:52820882-52820894 chr15:52821461-52821473 chr15:52821465-52821474 chr15:52821037-52821049
11	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
12	RAD21	chr15:52820757-52821543	H1-hESC	embryonic stem cell:	n/a	chr15:52821175-52821188
13	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
14	TAF1	chr15:52821199-52821767	H1-neurons	neurons:	n/a	n/a
15	SMC3	chr15:52820946-52821729	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:52821114-52821602	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr15:52820690-52821948	U87	brain:	n/a	n/a
18	CTCF	chr15:52820886-52821617	GM12878	blood:	n/a	chr15:52821565-52821578 chr15:52821179-52821192
19	POLR2A	chr15:52820800-52821561	PANC-1	pancreas:	n/a	n/a
20	CHD2	chr15:52820914-52821649	Hela-S3	cervix:	n/a	chr15:52821471-52821481
21	POLR2A	chr15:52821198-52821552	Hela-S3	cervix:	n/a	n/a
22	EBF1	chr15:52821177-52821643	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:52820422-52821731	GM18951	blood:	n/a	n/a
24	ZNF263	chr15:52821318-52821818	HEK293-T-REx	kidney:	n/a	chr15:52821346-52821355
25	CTCF	chr15:52821400-52821550	GM12871	blood:	n/a	n/a
26	POLR2A	chr15:52821149-52821682	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:52820676-52821666	GM15510	blood:	n/a	n/a
28	POLR2A	chr15:52820744-52821645	MCF-7	breast:	n/a	n/a
29	TBP	chr15:52820362-52821995	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:52820788-52821659	GM18526	blood:	n/a	n/a
31	JUND	chr15:52821385-52821867	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr15:52820625-52821762	GM12878	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	STAT1	chr15:52821205-52821668	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:52820828-52821633	GM10847	blood:	n/a	n/a
35	SIN3A	chr15:52819993-52822243	H1-hESC	embryonic stem cell:	n/a	chr15:52820934-52820945 chr15:52820710-52820721 chr15:52820874-52820887 chr15:52821085-52821096 chr15:52821567-52821578
36	MAZ	chr15:52820760-52821715	GM12878	blood:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
37	YY1	chr15:52820618-52821709	GM12878	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
38	MAX	chr15:52821214-52821688	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr15:52820722-52821660	ProgFib	skin:	n/a	n/a
40	POLR2A	chr15:52820720-52821587	GM12878	blood:	n/a	n/a
41	CTCF	chr15:52821400-52821550	HMEC	breast:	n/a	n/a
42	RAD21	chr15:52821196-52821680	MCF-7	breast:	n/a	chr15:52821564-52821577
43	YY1	chr15:52821212-52821741	SK-N-SH_RA	brain:	n/a	chr15:52821454-52821468 chr15:52821460-52821474 chr15:52821465-52821474 chr15:52821457-52821471 chr15:52821462-52821471 chr15:52821462-52821473
44	YY1	chr15:52821172-52821711	HepG2	liver:	n/a	chr15:52821454-52821468 chr15:52821460-52821474 chr15:52821465-52821474 chr15:52821457-52821471 chr15:52821462-52821471 chr15:52821462-52821473
45	RAD21	chr15:52821194-52821684	A549	lung:	n/a	chr15:52821564-52821577
46	POLR2A	chr15:52820801-52821744	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:52820050-52822134	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr15:52820491-52821765	Raji	blood:	n/a	n/a
49	POLR2A	chr15:52820878-52821592	HCT-116	colon:	n/a	n/a
50	MAZ	chr15:52820146-52822008	IMR90	lung:	n/a	chr15:52821025-52821035 chr15:52820897-52820907

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:52821541-52821591	RPTEC	kidney:	n/a
2	chr15:52821541-52821591	AG10803	skin:	n/a
3	chr15:52821541-52821591	PrEC	prostate:	n/a
4	chr15:52821541-52821591	HEK293	kidney:	embryo
5	chr15:52821541-52821591	HMEC	breast:	n/a
6	chr15:52821541-52821591	Hela-S3	cervix:	n/a
7	chr15:52821541-52821591	NT2-D1	testis:	n/a
8	chr15:52821541-52821591	HCPEpiC	choroid plexus:	n/a
9	chr15:52821541-52821591	SK-N-MC	brain:	n/a
10	chr15:52821541-52821591	GM12892	blood:	n/a
11	chr15:52821541-52821591	HRCEpiC	kidney:	n/a
12	chr15:52821541-52821591	H1-hESC	embryonic stem cell:	embryo
13	chr15:52821541-52821591	T-47D	breast:	n/a
14	chr15:52821541-52821591	A549	lung:	n/a
15	chr15:52821541-52821591	HCF	heart:	n/a
16	chr15:52821541-52821591	GM12891	blood:	n/a
17	chr15:52821541-52821591	MCF-7	breast:	n/a
18	chr15:52821541-52821591	U87	brain:	n/a
19	chr15:52821541-52821591	AoSMC	blood vessel:	n/a
20	chr15:52821541-52821591	NHDF-neo	bronchial:	n/a
21	chr15:52821541-52821591	PANC-1	pancreas:	n/a
22	chr15:52821541-52821591	MCF10A-Er-Src	breast:	n/a
23	chr15:52821541-52821591	GM06990	blood:	n/a
24	chr15:52821541-52821591	HCT-116	colon:	n/a
25	chr15:52821541-52821591	NHBE	bronchial:	n/a
26	chr15:52821541-52821591	ovcar-3	ovarian:	n/a
27	chr15:52821541-52821591	HUVEC	blood vessel:	n/a
28	chr15:52821541-52821591	ECC-1	luminal epithelium:	n/a
29	chr15:52821541-52821591	HNPCEpiC	eye:	n/a
30	chr15:52821541-52821591	SK-N-SH	brain:	n/a
31	chr15:52821541-52821591	Caco-2	colon:	n/a
32	chr15:52821541-52821591	SKMC	muscle:	n/a
33	chr15:52821541-52821591	AG04450	lung:	fetal
34	chr15:52821541-52821591	NH-A	brain:	n/a
35	chr15:52821541-52821591	HCM	heart:	n/a
36	chr15:52821541-52821591	BE2_C	brain:	n/a
37	chr15:52821541-52821591	GM12878	blood:	n/a
38	chr15:52821541-52821591	HRE	kidney:	n/a
39	chr15:52821541-52821591	AG09319	gingival:	n/a
40	chr15:52821541-52821591	HPAEpiC	pulmonary alveolar:	n/a
41	chr15:52821541-52821591	HEEpiC	esophagus:	n/a
42	chr15:52821541-52821591	HRPEpiC	eye:	n/a
43	chr15:52821541-52821591	HL-60	blood:	n/a
44	chr15:52821541-52821591	BJ	skin:	n/a
45	chr15:52821541-52821591	HepG2	liver:	n/a
46	chr15:52821541-52821591	HIPEpiC	eye:	n/a
47	chr15:52821541-52821591	NB4	blood:	n/a
48	chr15:52821541-52821591	CMK	blood:	n/a
49	chr15:52821541-52821591	K562	blood:	n/a
50	chr15:52821541-52821591	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52816804..52818865-chr15:52821369..52824453,4	K562	blood:
2	chr15:52819283..52821980-chr16:88877332..88878840,2	MCF-7	breast:
3	chr15:52584393..52589074-chr15:52819513..52822265,5	MCF-7	breast:
4	chr15:52820217..52824623-chr15:52859000..52863588,7	MCF-7	breast:
5	chr15:52820950..52823000-chr15:52846878..52849661,2	MCF-7	breast:
6	chr15:52820917..52821847-chr17:56736116..56736779,3	MCF-7	breast:
7	chr15:52821243..52824156-chr15:52859754..52862350,2	MCF-7	breast:

Variant related genes	Relation type
MYO5A	TF binding region
MYO5A	CpG island
ENSG00000202077	Chromatin interaction
ENSG00000128833	Chromatin interaction
ENSG00000128989	Chromatin interaction
ENSG00000198931	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	chr15:52819800-52822000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:52819800-52822000	Active TSS	Brain Angular Gyrus	brain
8	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr15:52819800-52822600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr15:52820000-52821600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:52820000-52821600	Active TSS	Thymus	Thymus
13	chr15:52820000-52821600	Active TSS	HSMMtube	muscle
14	chr15:52820000-52821800	Active TSS	Fetal Brain Female	brain
15	chr15:52820000-52822000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:52820000-52822000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:52820000-52822000	Active TSS	Right Atrium	heart
18	chr15:52820000-52822000	Active TSS	Right Ventricle	heart
19	chr15:52820000-52822200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:52820000-52822200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:52820000-52822400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:52820200-52821600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:52820200-52821600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:52820200-52821600	Active TSS	Brain Substantia Nigra	brain
25	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Thymus	thymus
29	chr15:52820200-52821600	Active TSS	HSMM	muscle
30	chr15:52820200-52821800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr15:52820200-52821800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:52820200-52821800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr15:52820200-52821800	Active TSS	Brain Hippocampus Middle	brain
34	chr15:52820200-52821800	Active TSS	Gastric	stomach
35	chr15:52820200-52821800	Active TSS	A549	lung
36	chr15:52820200-52821800	Active TSS	NHDF-Ad	bronchial
37	chr15:52820200-52822000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:52820200-52822000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:52820200-52822000	Active TSS	Ovary	ovary
40	chr15:52820200-52822200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:52820200-52822200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr15:52820400-52821600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:52820400-52821600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:52820400-52821600	Active TSS	Primary B cells from peripheral blood	blood
45	chr15:52820400-52821600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr15:52820400-52821600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr15:52820400-52821600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr15:52820400-52821600	Active TSS	Brain Germinal Matrix	brain
49	chr15:52820400-52821600	Active TSS	Lung	lung
50	chr15:52820400-52821600	Active TSS	Skeletal Muscle Female	skeletal muscle

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