Variant report

Variant	rs62009274
Chromosome Location	chr15:78424367-78424368
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	MAX	chr15:78423624-78424503	ECC-1	luminal epithelium:	n/a	chr15:78423785-78423795
2	ZBTB7A	chr15:78423508-78424392	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
3	SMARCB1	chr15:78423646-78424399	Hela-S3	cervix:	n/a	n/a
4	MAX	chr15:78423653-78424472	MCF-7	breast:	n/a	chr15:78423785-78423795
5	RAD21	chr15:78423569-78424411	HCT-116	colon:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
6	POLR2A	chr15:78423506-78424442	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr15:78424220-78424370	HUVEC	blood vessel:	n/a	n/a
8	TBP	chr15:78423469-78424424	K562	blood:	n/a	n/a
9	MAX	chr15:78423636-78424466	SK-N-SH	brain:	n/a	chr15:78423785-78423795
10	SMARCC1	chr15:78423789-78424437	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr15:78423708-78424539	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr15:78423480-78424382	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:78423617-78424471	K562	blood:	n/a	n/a
14	ZKSCAN1	chr15:78423764-78424454	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr15:78423645-78424460	Hela-S3	cervix:	n/a	chr15:78423897-78423907
16	POLR2A	chr15:78423492-78424434	GM15510	blood:	n/a	n/a
17	E2F6	chr15:78423663-78424496	A549	lung:	n/a	chr15:78424088-78424098 chr15:78424024-78424034 chr15:78423919-78423928 chr15:78423774-78423786 chr15:78423689-78423701 chr15:78423900-78423909 chr15:78423734-78423743
18	MAX	chr15:78423630-78424490	A549	lung:	n/a	chr15:78423785-78423795
19	BHLHE40	chr15:78423661-78424512	K562	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808
20	MAX	chr15:78423697-78424458	NB4	blood:	n/a	chr15:78423785-78423795
21	MAX	chr15:78423156-78424411	K562	blood:	n/a	chr15:78423785-78423795
22	POLR2A	chr15:78423728-78424397	Hela-S3	cervix:	n/a	n/a
23	SIN3A	chr15:78424223-78424422	GM12878	blood:	n/a	n/a
24	ZNF384	chr15:78423742-78424428	K562	blood:	n/a	chr15:78424035-78424043
25	ZNF384	chr15:78423808-78424493	GM12878	blood:	n/a	chr15:78424035-78424043
26	POLR2A	chr15:78423614-78424385	PFSK-1	brain:	n/a	n/a
27	MAX	chr15:78423672-78424426	SK-N-SH	brain:	n/a	chr15:78423785-78423795
28	MAX	chr15:78423670-78424411	Hela-S3	cervix:	n/a	chr15:78423785-78423795
29	POLR2A	chr15:78423672-78424626	HepG2	liver:	n/a	n/a
30	MYBL2	chr15:78424117-78424537	HepG2	liver:	n/a	n/a
31	MAZ	chr15:78423051-78424422	K562	blood:	n/a	chr15:78423785-78423795
32	UBTF	chr15:78422792-78424443	K562	blood:	n/a	n/a
33	MAX	chr15:78423147-78424605	A549	lung:	n/a	chr15:78423785-78423795
34	MAZ	chr15:78423423-78424443	GM12878	blood:	n/a	chr15:78423785-78423795
35	MYC	chr15:78423718-78424397	NB4	blood:	n/a	chr15:78423785-78423795
36	POLR2A	chr15:78423771-78424435	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:78423362-78424393	K562	blood:	n/a	n/a
38	HCFC1	chr15:78423585-78424499	K562	blood:	n/a	n/a
39	MXI1	chr15:78423807-78424501	Hela-S3	cervix:	n/a	n/a
40	TCF12	chr15:78423588-78424643	A549	lung:	n/a	n/a
41	BACH1	chr15:78423663-78424469	H1-hESC	embryonic stem cell:	n/a	n/a
42	KAP1	chr15:78423710-78424436	HEK293	kidney:	n/a	n/a
43	ZBTB7A	chr15:78423610-78424528	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
44	HEY1	chr15:78423817-78424440	K562	blood:	n/a	n/a
45	MXI1	chr15:78423678-78424401	GM12878	blood:	n/a	n/a
46	MAX	chr15:78423797-78424448	ECC-1	luminal epithelium:	n/a	n/a
47	MTA3	chr15:78423697-78424561	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:78423807-78424412	Hela-S3	cervix:	n/a	n/a
49	ELF1	chr15:78423672-78424477	MCF-7	breast:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
50	RAD21	chr15:78423485-78424516	SK-N-SH	brain:	n/a	chr15:78423842-78423855 chr15:78423708-78423722

No.	Distal block	Cell Line	Cell type
1	chr15:78424185..78426461-chr15:78430186..78431822,2	K562	blood:
2	chr15:78423938..78425787-chr15:78425913..78427617,2	K562	blood:
3	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
4	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
5	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
6	chr15:78424205..78426450-chr15:78728498..78730195,2	K562	blood:
7	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
8	chr15:78423820..78425369-chr15:78574288..78576188,2	K562	blood:
9	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
10	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACSBG1-3	chr15:78424252-78424524	l_1196_chr15:78424251-78427184_brain

Variant related genes	Relation type
CIB2	TF binding region
ENSG00000174738	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000272418	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
7	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
8	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:78423200-78424400	Active TSS	Fetal Intestine Large	intestine
13	chr15:78423200-78424400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:78423200-78424600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:78423200-78424600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:78423200-78424600	Active TSS	Right Ventricle	heart
17	chr15:78423200-78424800	Active TSS	Thymus	Thymus
18	chr15:78423400-78424400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr15:78423400-78424400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:78423400-78424400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:78423400-78424400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:78423400-78424400	Active TSS	Ovary	ovary
23	chr15:78423400-78424400	Active TSS	Small Intestine	intestine
24	chr15:78423400-78424400	Active TSS	A549	lung
25	chr15:78423400-78424600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr15:78423400-78424600	Active TSS	Fetal Intestine Small	intestine
27	chr15:78423400-78424600	Active TSS	Left Ventricle	heart
28	chr15:78423400-78424600	Active TSS	Psoas Muscle	Psoas
29	chr15:78423400-78424600	Active TSS	Right Atrium	heart
30	chr15:78423600-78424400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:78423600-78424400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr15:78423600-78424600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr15:78423600-78424600	Active TSS	NHLF	lung
34	chr15:78423800-78424400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:78423800-78424400	Flanking Active TSS	Stomach Mucosa	stomach
36	chr15:78423800-78424600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr15:78423800-78424600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:78423800-78424600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:78423800-78424600	Flanking Active TSS	HMEC	breast
40	chr15:78424000-78424400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:78424000-78424400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:78424000-78424400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr15:78424000-78424400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr15:78424000-78424400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:78424000-78424400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:78424000-78424400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:78424000-78424400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr15:78424000-78424400	Flanking Active TSS	Esophagus	oesophagus
49	chr15:78424000-78424400	Active TSS	Fetal Heart	heart
50	chr15:78424000-78424400	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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