Variant report

Variant	rs367666907
Chromosome Location	chr15:52821960-52821961
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	POLR2A	chr15:52820010-52822087	H1-neurons	neurons:	n/a	n/a
2	TBP	chr15:52820362-52821995	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr15:52821956-52822154	HepG2	liver:	n/a	n/a
4	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
5	POLR2A	chr15:52820050-52822134	H1-neurons	neurons:	n/a	n/a
6	MAZ	chr15:52820146-52822008	IMR90	lung:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
7	TAF1	chr15:52820335-52822050	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr15:52819779-52821960	IMR90	lung:	n/a	chr15:52821233-52821242
9	SIN3AK20	chr15:52820073-52822421	MCF-7	breast:	n/a	n/a
10	RAD21	chr15:52820229-52822030	H1-hESC	embryonic stem cell:	n/a	chr15:52821175-52821188 chr15:52821564-52821577 chr15:52820736-52820749 chr15:52820715-52820725 chr15:52821865-52821874
11	POLR2A	chr15:52820348-52822315	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAZ	chr15:52821953-52822050	HepG2	liver:	n/a	n/a
13	TCF7L2	chr15:52821697-52822308	HepG2	liver:	n/a	n/a
14	HA-E2F1	chr15:52821273-52822006	MCF-7	breast:	n/a	chr15:52821463-52821473 chr15:52821462-52821471 chr15:52821457-52821467
15	CTBP2	chr15:52820248-52822017	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr15:52820107-52821974	MCF-7	breast:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
17	ELF1	chr15:52820336-52822279	MCF-7	breast:	n/a	chr15:52820882-52820894 chr15:52821461-52821473 chr15:52821465-52821474 chr15:52821037-52821049
18	TAF1	chr15:52820347-52821984	MCF-7	breast:	n/a	n/a
19	TCF7L2	chr15:52821960-52822356	MCF-7	breast:	n/a	n/a
20	MAX	chr15:52820180-52822361	MCF-7	breast:	n/a	chr15:52821025-52821035 chr15:52820897-52820907
21	REST	chr15:52819834-52822509	H1-neurons	neurons:	n/a	chr15:52821236-52821249
22	MXI1	chr15:52819875-52822056	SK-N-SH	brain:	n/a	chr15:52821233-52821242
23	TCF7L2	chr15:52821954-52822199	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr15:52820688-52821968	GM18505	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:52821917-52821967	HRPEpiC	eye:	n/a
2	chr15:52821917-52821967	Hepatocyte	liver:	n/a
3	chr15:52821917-52821967	Caco-2	colon:	n/a
4	chr15:52821917-52821967	HRE	kidney:	n/a
5	chr15:52821917-52821967	HIPEpiC	eye:	n/a
6	chr15:52821917-52821967	HMEC	breast:	n/a
7	chr15:52821917-52821967	PFSK-1	brain:	n/a
8	chr15:52821917-52821967	HAEpiC	amniotic membrane:	n/a
9	chr15:52821917-52821967	A549	lung:	n/a
10	chr15:52821917-52821967	NHBE	bronchial:	n/a
11	chr15:52821917-52821967	MCF10A-Er-Src	breast:	n/a
12	chr15:52821917-52821967	HCF	heart:	n/a
13	chr15:52821917-52821967	HCPEpiC	choroid plexus:	n/a
14	chr15:52821917-52821967	AG04450	lung:	fetal
15	chr15:52821917-52821967	MCF-7	breast:	n/a
16	chr15:52821917-52821967	SK-N-SH	brain:	n/a
17	chr15:52821917-52821967	SK-N-SH_RA	brain:	n/a
18	chr15:52821917-52821967	ovcar-3	ovarian:	n/a
19	chr15:52821917-52821967	HUVEC	blood vessel:	n/a
20	chr15:52821917-52821967	SAEC	small airway:	n/a
21	chr15:52821917-52821967	U87	brain:	n/a
22	chr15:52821917-52821967	PrEC	prostate:	n/a
23	chr15:52821917-52821967	Hela-S3	cervix:	n/a
24	chr15:52821917-52821967	H1-hESC	embryonic stem cell:	embryo
25	chr15:52821917-52821967	HCM	heart:	n/a
26	chr15:52821917-52821967	ProgFib	skin:	n/a
27	chr15:52821917-52821967	NT2-D1	testis:	n/a
28	chr15:52821917-52821967	NH-A	brain:	n/a
29	chr15:52821917-52821967	AG09319	gingival:	n/a
30	chr15:52821917-52821967	GM19239	blood:	n/a
31	chr15:52821917-52821967	AG04449	skin:	fetal
32	chr15:52821917-52821967	HL-60	blood:	n/a
33	chr15:52821917-52821967	BE2_C	brain:	n/a
34	chr15:52821917-52821967	NB4	blood:	n/a
35	chr15:52821917-52821967	SKMC	muscle:	n/a
36	chr15:52821917-52821967	GM06990	blood:	n/a
37	chr15:52821917-52821967	AG09309	skin:	n/a
38	chr15:52821917-52821967	HNPCEpiC	eye:	n/a
39	chr15:52821917-52821967	HPAEpiC	pulmonary alveolar:	n/a
40	chr15:52821917-52821967	GM12892	blood:	n/a
41	chr15:52821917-52821967	CMK	blood:	n/a
42	chr15:52821917-52821967	BJ	skin:	n/a
43	chr15:52821917-52821967	IMR90	lung:	fetal
44	chr15:52821917-52821967	HepG2	liver:	n/a
45	chr15:52821917-52821967	SK-N-MC	brain:	n/a
46	chr15:52821917-52821967	ECC-1	luminal epithelium:	n/a
47	chr15:52821917-52821967	HRCEpiC	kidney:	n/a
48	chr15:52821917-52821967	K562	blood:	n/a
49	chr15:52821917-52821967	GM12891	blood:	n/a
50	chr15:52821917-52821967	AoSMC	blood vessel:	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	chr15:52821243..52824156-chr15:52859754..52862350,2	MCF-7	breast:

Variant related genes	Relation type
MYO5A	TF binding region
MYO5A	CpG island
ENSG00000128833	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000128989	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:127 , 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	chr15:52819600-52822000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:52819600-52822000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr15:52819800-52822000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:52819800-52822000	Active TSS	Brain Angular Gyrus	brain
7	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:52819800-52822600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr15:52820000-52822000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:52820000-52822000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:52820000-52822000	Active TSS	Right Atrium	heart
13	chr15:52820000-52822000	Active TSS	Right Ventricle	heart
14	chr15:52820000-52822200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:52820000-52822200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr15:52820000-52822400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:52820200-52822000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:52820200-52822000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:52820200-52822000	Active TSS	Ovary	ovary
20	chr15:52820200-52822200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:52820200-52822200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:52820400-52822000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:52820400-52822000	Active TSS	Brain Cingulate Gyrus	brain
24	chr15:52820400-52822000	Active TSS	Left Ventricle	heart
25	chr15:52820400-52822200	Active TSS	Rectal Smooth Muscle	rectum
26	chr15:52820400-52822400	Active TSS	Aorta	Aorta
27	chr15:52820600-52822000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr15:52820600-52822000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:52820600-52822000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:52820800-52822000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr15:52820800-52822000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr15:52821000-52822000	Active TSS	Esophagus	oesophagus
33	chr15:52821400-52822000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:52821400-52822000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr15:52821400-52822000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:52821400-52822000	Flanking Active TSS	Liver	Liver
37	chr15:52821400-52822000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
38	chr15:52821400-52822200	Flanking Active TSS	Dnd41	blood
39	chr15:52821400-52822400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr15:52821400-52822400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:52821400-52822400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:52821600-52822000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:52821600-52822000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:52821600-52822000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr15:52821600-52822000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr15:52821600-52822000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:52821600-52822000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr15:52821600-52822000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:52821600-52822000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr15:52821600-52822000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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