Variant report

Variant	rs4924455
Chromosome Location	chr15:40633138-40633139
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40630789-40633526	U87	brain:	n/a	n/a
2	MAZ	chr15:40629940-40633888	IMR90	lung:	n/a	chr15:40632042-40632058
3	RAD21	chr15:40632978-40633300	IMR90	lung:	n/a	n/a
4	FOXP2	chr15:40632970-40633441	PFSK-1	brain:	n/a	n/a
5	GATA2	chr15:40632367-40633472	SH-SY5Y	brain:	n/a	chr15:40632633-40632644
6	EP300	chr15:40632165-40633583	ECC-1	luminal epithelium:	n/a	chr15:40632913-40632929 chr15:40632926-40632942 chr15:40632245-40632252
7	TAF1	chr15:40632697-40633338	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr15:40632403-40633481	HUVEC	blood vessel:	n/a	n/a
9	NR2F2	chr15:40633032-40633536	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:40633080-40633230	HBMEC	blood vessel:	n/a	n/a
11	CEBPB	chr15:40632995-40633349	ECC-1	luminal epithelium:	n/a	n/a
12	MYC	chr15:40633007-40633210	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr15:40632935-40633323	SK-N-SH_RA	brain:	n/a	n/a
14	GATA3	chr15:40632895-40633486	MCF-7	breast:	n/a	n/a
15	NFIC	chr15:40632290-40633485	SK-N-SH	brain:	n/a	chr15:40633175-40633192
16	SMC3	chr15:40632985-40633337	Hela-S3	cervix:	n/a	n/a
17	JUND	chr15:40633066-40633324	K562	blood:	n/a	n/a
18	MYC	chr15:40633073-40633320	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr15:40633020-40633170	HPAF	blood vessel:	n/a	n/a
20	MAX	chr15:40632859-40633523	ECC-1	luminal epithelium:	n/a	n/a
21	CHD2	chr15:40632949-40633242	HepG2	liver:	n/a	n/a
22	MXI1	chr15:40631720-40633980	SK-N-SH	brain:	n/a	n/a
23	EP300	chr15:40633073-40633268	K562	blood:	n/a	n/a
24	RCOR1	chr15:40632989-40633289	K562	blood:	n/a	n/a
25	CTCF	chr15:40633020-40633170	SK-N-SH_RA	brain:	n/a	n/a
26	RAD21	chr15:40633081-40633238	Hela-S3	cervix:	n/a	n/a
27	ELK1	chr15:40633040-40633272	Hela-S3	cervix:	n/a	n/a
28	NR3C1	chr15:40632893-40633298	ECC-1	luminal epithelium:	n/a	n/a
29	CEBPB	chr15:40633016-40633318	MCF-7	breast:	n/a	n/a
30	MAX	chr15:40633047-40633314	K562	blood:	n/a	n/a
31	NFIC	chr15:40632197-40633568	ECC-1	luminal epithelium:	n/a	chr15:40633175-40633192
32	SIN3AK20	chr15:40632958-40633348	SK-N-SH	brain:	n/a	n/a
33	RCOR1	chr15:40633063-40633235	HepG2	liver:	n/a	n/a
34	POLR2A	chr15:40632641-40633466	PANC-1	pancreas:	n/a	n/a
35	REST	chr15:40632970-40633309	SK-N-SH	brain:	n/a	chr15:40633270-40633283 chr15:40633273-40633286
36	MYC	chr15:40632982-40633317	MCF10A-Er-Src	breast:	n/a	n/a
37	CEBPB	chr15:40632981-40633339	A549	lung:	n/a	n/a
38	UBTF	chr15:40632947-40633295	K562	blood:	n/a	n/a
39	POLR2A	chr15:40630881-40633380	U87	brain:	n/a	n/a
40	TAF1	chr15:40632295-40633375	ECC-1	luminal epithelium:	n/a	n/a
41	RCOR1	chr15:40632528-40633355	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:40630212-40633443	IMR90	lung:	n/a	n/a
43	YY1	chr15:40633057-40633401	HepG2	liver:	n/a	n/a
44	HDAC2	chr15:40632859-40633407	MCF-7	breast:	n/a	n/a
45	CEBPB	chr15:40632970-40633389	A549	lung:	n/a	n/a
46	MAX	chr15:40632896-40633672	ECC-1	luminal epithelium:	n/a	n/a
47	NFIC	chr15:40632977-40633329	HepG2	liver:	n/a	chr15:40633175-40633192
48	GATA3	chr15:40632915-40633397	T-47D	breast:	n/a	n/a
49	CEBPB	chr15:40632961-40633457	A549	lung:	n/a	n/a
50	MAX	chr15:40632676-40633354	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40633124-40633174	CMK	blood:	n/a
2	chr15:40633124-40633174	PFSK-1	brain:	n/a
3	chr15:40633124-40633174	MCF10A-Er-Src	breast:	n/a
4	chr15:40633124-40633174	PrEC	prostate:	n/a
5	chr15:40633124-40633174	HRE	kidney:	n/a
6	chr15:40633124-40633174	HAEpiC	amniotic membrane:	n/a
7	chr15:40633124-40633174	HEEpiC	esophagus:	n/a
8	chr15:40633124-40633174	A549	lung:	n/a
9	chr15:40633124-40633174	Hepatocyte	liver:	n/a
10	chr15:40633124-40633174	HRPEpiC	eye:	n/a
11	chr15:40633124-40633174	LNCaP	prostate:	n/a
12	chr15:40633124-40633174	K562	blood:	n/a
13	chr15:40633124-40633174	Caco-2	colon:	n/a
14	chr15:40633124-40633174	AoSMC	blood vessel:	n/a
15	chr15:40633124-40633174	NH-A	brain:	n/a
16	chr15:40633124-40633174	HCPEpiC	choroid plexus:	n/a
17	chr15:40633124-40633174	H1-hESC	embryonic stem cell:	embryo
18	chr15:40633124-40633174	HUVEC	blood vessel:	n/a
19	chr15:40633124-40633174	SKMC	muscle:	n/a
20	chr15:40633124-40633174	GM12892	blood:	n/a
21	chr15:40633124-40633174	HCF	heart:	n/a
22	chr15:40633124-40633174	SK-N-SH_RA	brain:	n/a
23	chr15:40633124-40633174	AG10803	skin:	n/a
24	chr15:40633124-40633174	RPTEC	kidney:	n/a
25	chr15:40633124-40633174	HEK293	kidney:	embryo
26	chr15:40633124-40633174	HRCEpiC	kidney:	n/a
27	chr15:40633124-40633174	GM06990	blood:	n/a
28	chr15:40633124-40633174	MCF-7	breast:	n/a
29	chr15:40633124-40633174	NT2-D1	testis:	n/a
30	chr15:40633124-40633174	ECC-1	luminal epithelium:	n/a
31	chr15:40633124-40633174	HCM	heart:	n/a
32	chr15:40633124-40633174	BE2_C	brain:	n/a
33	chr15:40633124-40633174	Jurkat	blood:	n/a
34	chr15:40633124-40633174	HPAEpiC	pulmonary alveolar:	n/a
35	chr15:40633124-40633174	AG04449	skin:	fetal
36	chr15:40633124-40633174	GM12878	blood:	n/a
37	chr15:40633124-40633174	IMR90	lung:	fetal
38	chr15:40633124-40633174	HepG2	liver:	n/a
39	chr15:40633124-40633174	GM12891	blood:	n/a
40	chr15:40633124-40633174	SAEC	small airway:	n/a
41	chr15:40633124-40633174	AG09309	skin:	n/a
42	chr15:40633124-40633174	AG09319	gingival:	n/a
43	chr15:40633124-40633174	SK-N-SH	brain:	n/a
44	chr15:40633124-40633174	HNPCEpiC	eye:	n/a
45	chr15:40633124-40633174	HIPEpiC	eye:	n/a
46	chr15:40633124-40633174	PANC-1	pancreas:	n/a
47	chr15:40633124-40633174	NB4	blood:	n/a
48	chr15:40633124-40633174	NHDF-neo	bronchial:	n/a
49	chr15:40633124-40633174	T-47D	breast:	n/a
50	chr15:40633124-40633174	HL-60	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
2	chr15:40581743..40583725-chr15:40632082..40634284,2	MCF-7	breast:
3	chr15:40632962..40635385-chr15:40697134..40699617,2	MCF-7	breast:
4	chr15:40631758..40634462-chr15:40659942..40662520,2	MCF-7	breast:
5	chr15:40628035..40631006-chr15:40631506..40634762,3	MCF-7	breast:

No data

Variant related genes	Relation type
C15orf52	TF binding region
C15orf52	CpG island
ENSG00000188549	Chromatin interaction
ENSG00000259330	Chromatin interaction
ENSG00000128928	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000137841	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1077476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070264	0.81[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12081	0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2118961	0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2289333	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2289334	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4334271	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4923863	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4923864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164564	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7164747	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173747	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs748245	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs882829	0.81[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs934937	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40621000-40637600	Enhancers	Fetal Heart	heart
2	chr15:40621200-40633400	Weak transcription	Fetal Kidney	kidney
3	chr15:40622400-40633800	Enhancers	Spleen	Spleen
4	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
5	chr15:40626600-40633800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:40627000-40633400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:40628800-40633600	Enhancers	Placenta	Placenta
8	chr15:40629400-40633600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:40629400-40637200	Enhancers	Fetal Lung	lung
10	chr15:40629600-40633400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:40629600-40633600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:40629600-40633600	Enhancers	Ovary	ovary
13	chr15:40629800-40633600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr15:40629800-40634000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr15:40630000-40633400	Enhancers	Fetal Brain Male	brain
16	chr15:40630000-40633400	Flanking Active TSS	NH-A	brain
17	chr15:40630000-40633600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:40630000-40633600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:40630200-40633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:40630200-40633400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:40630400-40633400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr15:40630400-40633800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr15:40630400-40635400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:40630600-40633200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:40630800-40633200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr15:40631000-40633600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr15:40631200-40633200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:40631200-40633200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:40631200-40633200	Flanking Active TSS	NHLF	lung
31	chr15:40631200-40633400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:40631400-40633200	Flanking Active TSS	HUVEC	blood vessel
33	chr15:40631400-40633600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr15:40631400-40634200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:40631600-40633200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr15:40631600-40633200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr15:40631800-40633200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:40631800-40633600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr15:40631800-40633600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:40631800-40633600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:40631800-40633800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:40632000-40633200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr15:40632000-40633200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr15:40632000-40633600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:40632000-40633800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:40632200-40633200	Active TSS	Gastric	stomach
47	chr15:40632200-40633200	Active TSS	HSMM	muscle
48	chr15:40632200-40633400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:40632200-40633400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:40632200-40633400	Enhancers	Small Intestine	intestine

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