Variant report

Variant	rs73397308
Chromosome Location	chr15:40632707-40632708
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	chr15:40630789-40633526	U87	brain:	n/a	n/a
2	MAZ	chr15:40629940-40633888	IMR90	lung:	n/a	chr15:40632042-40632058
3	GATA2	chr15:40632367-40633472	SH-SY5Y	brain:	n/a	chr15:40632633-40632644
4	EP300	chr15:40632165-40633583	ECC-1	luminal epithelium:	n/a	chr15:40632913-40632929 chr15:40632926-40632942 chr15:40632245-40632252
5	TAF1	chr15:40632697-40633338	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:40632403-40633481	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr15:40632700-40632850	AG10803	skin:	n/a	chr15:40632784-40632793
8	CTCF	chr15:40632660-40632810	HUVEC	blood vessel:	n/a	chr15:40632784-40632793
9	NFIC	chr15:40632290-40633485	SK-N-SH	brain:	n/a	chr15:40633175-40633192
10	SPI1	chr15:40632682-40633091	HL-60	blood:	n/a	chr15:40632954-40632967 chr15:40632890-40632903
11	MXI1	chr15:40631720-40633980	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr15:40632660-40632810	HBMEC	blood vessel:	n/a	chr15:40632784-40632793
13	POLR2A	chr15:40632428-40632713	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr15:40632197-40633568	ECC-1	luminal epithelium:	n/a	chr15:40633175-40633192
15	POLR2A	chr15:40632641-40633466	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr15:40630881-40633380	U87	brain:	n/a	n/a
17	TAF1	chr15:40632295-40633375	ECC-1	luminal epithelium:	n/a	n/a
18	RCOR1	chr15:40632528-40633355	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:40632700-40632850	HPF	lung:	n/a	chr15:40632784-40632793
20	POLR2A	chr15:40630212-40633443	IMR90	lung:	n/a	n/a
21	MAX	chr15:40632676-40633354	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr15:40632695-40633355	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:40630776-40633457	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr15:40630896-40633380	U87	brain:	n/a	n/a
25	RFX5	chr15:40632508-40633338	Hela-S3	cervix:	n/a	chr15:40632880-40632895
26	RAD21	chr15:40631041-40633804	SK-N-SH	brain:	n/a	chr15:40631917-40631929 chr15:40631915-40631928 chr15:40631917-40631927 chr15:40631912-40631931
27	CTCF	chr15:40632680-40632830	HPF	lung:	n/a	chr15:40632784-40632793
28	POLR2A	chr15:40632318-40633399	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr15:40632620-40632770	HUVEC	blood vessel:	n/a	n/a
30	TCF12	chr15:40632263-40633543	ECC-1	luminal epithelium:	n/a	chr15:40632682-40632689 chr15:40632912-40632922 chr15:40632778-40632788 chr15:40633250-40633257 chr15:40632922-40632932 chr15:40632518-40632526
31	POLR2A	chr15:40632702-40633332	Gliobla	brain:	n/a	n/a
32	ZBTB7A	chr15:40630110-40633237	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr15:40632229-40633426	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr15:40630215-40633532	U87	brain:	n/a	n/a
35	POLR2A	chr15:40632373-40633346	HUVEC	blood vessel:	n/a	n/a
36	NFIC	chr15:40632268-40633555	ECC-1	luminal epithelium:	n/a	chr15:40633175-40633192
37	HCFC1	chr15:40632649-40633630	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:40630162-40633385	PANC-1	pancreas:	n/a	n/a
39	NFIC	chr15:40632205-40633640	SK-N-SH	brain:	n/a	chr15:40633175-40633192
40	CTCF	chr15:40632580-40632730	BE2_C	brain:	n/a	n/a
41	CTCF	chr15:40632660-40632930	AG04450	lung:	n/a	chr15:40632784-40632793
42	CTCF	chr15:40632620-40632770	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr15:40632680-40632830	HCT-116	colon:	n/a	chr15:40632784-40632793
44	POLR2A	chr15:40632543-40633345	Hela-S3	cervix:	n/a	n/a
45	TCF12	chr15:40632101-40633609	ECC-1	luminal epithelium:	n/a	chr15:40632682-40632689 chr15:40632912-40632922 chr15:40632778-40632788 chr15:40633250-40633257 chr15:40632922-40632932 chr15:40632518-40632526
46	ZBTB7A	chr15:40631716-40633480	ECC-1	luminal epithelium:	n/a	n/a
47	MXI1	chr15:40632310-40633578	IMR90	lung:	n/a	n/a
48	CHD2	chr15:40632307-40633410	Hela-S3	cervix:	n/a	chr15:40632598-40632608
49	CTCF	chr15:40632620-40632770	AG09319	gingival:	n/a	n/a
50	ZNF263	chr15:40632383-40633466	HEK293-T-REx	kidney:	n/a	n/a

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	chr15:40631758..40634462-chr15:40659942..40662520,2	MCF-7	breast:
4	chr15:40628035..40631006-chr15:40631506..40634762,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf52-3	chr15:40632106-40632839	NONHSAT041829

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73391374	1.00[AMR][1000 genomes]
rs73397400	1.00[AMR][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:105 , 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	chr15:40630200-40633000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr15:40630200-40633000	Flanking Active TSS	Osteobl	bone
21	chr15:40630200-40633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:40630200-40633400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40630400-40632800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:40630400-40633000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:40630400-40633400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr15:40630400-40633800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr15:40630400-40635400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:40630600-40632800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:40630600-40633000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr15:40630600-40633200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:40630800-40632800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:40630800-40633200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr15:40631000-40633600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr15:40631200-40633200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:40631200-40633200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:40631200-40633200	Flanking Active TSS	NHLF	lung
38	chr15:40631200-40633400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:40631400-40633000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:40631400-40633200	Flanking Active TSS	HUVEC	blood vessel
41	chr15:40631400-40633600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:40631400-40634200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:40631600-40632800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:40631600-40633000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr15:40631600-40633200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:40631600-40633200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr15:40631800-40633000	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr15:40631800-40633000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr15:40631800-40633200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:40631800-40633600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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