Variant report

Variant	rs34567466
Chromosome Location	chr15:40633301-40633302
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 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	FOXP2	chr15:40632970-40633441	PFSK-1	brain:	n/a	n/a
4	GATA2	chr15:40632367-40633472	SH-SY5Y	brain:	n/a	chr15:40632633-40632644
5	EP300	chr15:40632165-40633583	ECC-1	luminal epithelium:	n/a	chr15:40632913-40632929 chr15:40632926-40632942 chr15:40632245-40632252
6	TAF1	chr15:40632697-40633338	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr15:40632403-40633481	HUVEC	blood vessel:	n/a	n/a
8	NR2F2	chr15:40633032-40633536	MCF-7	breast:	n/a	n/a
9	CEBPB	chr15:40632995-40633349	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr15:40632935-40633323	SK-N-SH_RA	brain:	n/a	n/a
11	GATA3	chr15:40632895-40633486	MCF-7	breast:	n/a	n/a
12	NFIC	chr15:40632290-40633485	SK-N-SH	brain:	n/a	chr15:40633175-40633192
13	SMC3	chr15:40632985-40633337	Hela-S3	cervix:	n/a	n/a
14	JUND	chr15:40633066-40633324	K562	blood:	n/a	n/a
15	MYC	chr15:40633073-40633320	HUVEC	blood vessel:	n/a	n/a
16	MAX	chr15:40632859-40633523	ECC-1	luminal epithelium:	n/a	n/a
17	MXI1	chr15:40631720-40633980	SK-N-SH	brain:	n/a	n/a
18	CEBPB	chr15:40633016-40633318	MCF-7	breast:	n/a	n/a
19	MAX	chr15:40633047-40633314	K562	blood:	n/a	n/a
20	NFIC	chr15:40632197-40633568	ECC-1	luminal epithelium:	n/a	chr15:40633175-40633192
21	SIN3AK20	chr15:40632958-40633348	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr15:40632641-40633466	PANC-1	pancreas:	n/a	n/a
23	REST	chr15:40632970-40633309	SK-N-SH	brain:	n/a	chr15:40633270-40633283 chr15:40633273-40633286
24	MYC	chr15:40632982-40633317	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr15:40632981-40633339	A549	lung:	n/a	n/a
26	POLR2A	chr15:40630881-40633380	U87	brain:	n/a	n/a
27	TAF1	chr15:40632295-40633375	ECC-1	luminal epithelium:	n/a	n/a
28	RCOR1	chr15:40632528-40633355	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:40630212-40633443	IMR90	lung:	n/a	n/a
30	YY1	chr15:40633057-40633401	HepG2	liver:	n/a	n/a
31	HDAC2	chr15:40632859-40633407	MCF-7	breast:	n/a	n/a
32	CEBPB	chr15:40632970-40633389	A549	lung:	n/a	n/a
33	MAX	chr15:40632896-40633672	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr15:40632977-40633329	HepG2	liver:	n/a	chr15:40633175-40633192
35	GATA3	chr15:40632915-40633397	T-47D	breast:	n/a	n/a
36	CEBPB	chr15:40632961-40633457	A549	lung:	n/a	n/a
37	MAX	chr15:40632676-40633354	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr15:40632979-40633344	IMR90	lung:	n/a	n/a
39	MAX	chr15:40632837-40633528	A549	lung:	n/a	n/a
40	POLR2A	chr15:40632892-40633362	HUVEC	blood vessel:	n/a	n/a
41	MAZ	chr15:40632695-40633355	Hela-S3	cervix:	n/a	n/a
42	ZKSCAN1	chr15:40633106-40633378	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr15:40630776-40633457	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr15:40630896-40633380	U87	brain:	n/a	n/a
45	RFX5	chr15:40632508-40633338	Hela-S3	cervix:	n/a	chr15:40632880-40632895
46	MAX	chr15:40632879-40633401	SK-N-SH	brain:	n/a	n/a
47	BHLHE40	chr15:40632960-40633317	HepG2	liver:	n/a	n/a
48	CEBPB	chr15:40632985-40633337	HepG2	liver:	n/a	n/a
49	RAD21	chr15:40631041-40633804	SK-N-SH	brain:	n/a	chr15:40631917-40631929 chr15:40631915-40631928 chr15:40631917-40631927 chr15:40631912-40631931
50	POLR2A	chr15:40632875-40633306	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	chr15:40633294-40633344	Hela-S3	cervix:	n/a
2	chr15:40633294-40633344	CMK	blood:	n/a
3	chr15:40633294-40633344	AG04450	lung:	fetal
4	chr15:40633294-40633344	ProgFib	skin:	n/a
5	chr15:40633294-40633344	MCF-7	breast:	n/a
6	chr15:40633294-40633344	HL-60	blood:	n/a
7	chr15:40633294-40633344	HNPCEpiC	eye:	n/a
8	chr15:40633294-40633344	HMEC	breast:	n/a
9	chr15:40633294-40633344	HIPEpiC	eye:	n/a
10	chr15:40633294-40633344	SAEC	small airway:	n/a
11	chr15:40633294-40633344	GM19239	blood:	n/a
12	chr15:40633294-40633344	K562	blood:	n/a
13	chr15:40633294-40633344	BE2_C	brain:	n/a
14	chr15:40633294-40633344	SK-N-SH	brain:	n/a
15	chr15:40633294-40633344	HRCEpiC	kidney:	n/a
16	chr15:40633294-40633344	GM12891	blood:	n/a
17	chr15:40633294-40633344	RPTEC	kidney:	n/a
18	chr15:40633294-40633344	HCT-116	colon:	n/a
19	chr15:40633294-40633344	ECC-1	luminal epithelium:	n/a
20	chr15:40633294-40633344	HRPEpiC	eye:	n/a
21	chr15:40633294-40633344	T-47D	breast:	n/a
22	chr15:40633294-40633344	Jurkat	blood:	n/a
23	chr15:40633294-40633344	Caco-2	colon:	n/a
24	chr15:40633294-40633344	HCPEpiC	choroid plexus:	n/a
25	chr15:40633294-40633344	A549	lung:	n/a
26	chr15:40633294-40633344	LNCaP	prostate:	n/a
27	chr15:40633294-40633344	AG09319	gingival:	n/a
28	chr15:40633294-40633344	IMR90	lung:	fetal
29	chr15:40633294-40633344	GM12892	blood:	n/a
30	chr15:40633294-40633344	SK-N-MC	brain:	n/a
31	chr15:40633294-40633344	NHBE	bronchial:	n/a
32	chr15:40633294-40633344	SK-N-SH_RA	brain:	n/a
33	chr15:40633294-40633344	HEEpiC	esophagus:	n/a
34	chr15:40633294-40633344	GM06990	blood:	n/a
35	chr15:40633294-40633344	PANC-1	pancreas:	n/a
36	chr15:40633294-40633344	GM12878	blood:	n/a
37	chr15:40633294-40633344	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:40633294-40633344	AG09309	skin:	n/a
39	chr15:40633294-40633344	Hepatocyte	liver:	n/a
40	chr15:40633294-40633344	HRE	kidney:	n/a
41	chr15:40633294-40633344	PFSK-1	brain:	n/a
42	chr15:40633294-40633344	SKMC	muscle:	n/a
43	chr15:40633294-40633344	MCF10A-Er-Src	breast:	n/a
44	chr15:40633294-40633344	U87	brain:	n/a
45	chr15:40633294-40633344	NH-A	brain:	n/a
46	chr15:40633294-40633344	AG04449	skin:	fetal
47	chr15:40633294-40633344	NT2-D1	testis:	n/a
48	chr15:40633294-40633344	HCM	heart:	n/a
49	chr15:40633294-40633344	H1-hESC	embryonic stem cell:	embryo
50	chr15:40633294-40633344	PrEC	prostate:	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
ENSG00000128928	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000259330	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000137841	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2118958	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]

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:101 , 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	chr15:40630200-40633400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:40630400-40633400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr15:40630400-40633800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr15:40630400-40635400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:40631000-40633600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr15:40631200-40633400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:40631400-40633600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:40631400-40634200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr15:40631800-40633600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr15:40631800-40633600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr15:40631800-40633600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:40631800-40633800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:40632000-40633600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr15:40632000-40633800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:40632200-40633400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:40632200-40633400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:40632200-40633400	Enhancers	Small Intestine	intestine
37	chr15:40632200-40633600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:40632200-40633600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:40632200-40633800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:40632200-40635200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:40632400-40633600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:40632400-40633600	Enhancers	K562	blood
43	chr15:40632400-40633600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr15:40632600-40633400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:40632800-40633400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr15:40632800-40633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:40632800-40634000	Enhancers	Fetal Brain Female	brain
48	chr15:40632800-40634200	Enhancers	Aorta	Aorta
49	chr15:40632800-40635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:40632800-40637000	Weak transcription	Fetal Thymus	thymus

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