Variant report

Variant	rs369744736
Chromosome Location	chr15:40615384-40615385
allele	-/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	TCF7L2	chr15:40615384-40616012	HCT-116	colon:	n/a	n/a
2	ELF1	chr15:40615301-40615964	MCF-7	breast:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
3	MAX	chr15:40615224-40616200	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr15:40615181-40616130	HCT-116	colon:	n/a	n/a
5	SIN3AK20	chr15:40615093-40615953	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr15:40615334-40616100	K562	blood:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
7	POLR2A	chr15:40615217-40616166	H1-neurons	neurons:	n/a	n/a
8	MAX	chr15:40615367-40615928	HUVEC	blood vessel:	n/a	n/a
9	CREB1	chr15:40615269-40616066	HepG2	liver:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
10	PBX3	chr15:40615305-40615989	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr15:40615339-40615955	SK-N-SH	brain:	n/a	n/a
12	MYBL2	chr15:40615268-40615649	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:40615310-40616160	H1-neurons	neurons:	n/a	n/a
14	JUND	chr15:40614913-40616036	SK-N-SH	brain:	n/a	n/a
15	RUNX3	chr15:40615291-40615882	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr15:40615374-40615717	HepG2	liver:	n/a	n/a
17	EP300	chr15:40615336-40616086	ECC-1	luminal epithelium:	n/a	chr15:40616070-40616086 chr15:40615738-40615754 chr15:40615905-40615914 chr15:40615825-40615841 chr15:40615771-40615778 chr15:40615737-40615753
18	CTCF	chr15:40615372-40615817	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615652-40615670 chr15:40615655-40615664
19	SETDB1	chr15:40615320-40615899	K562	blood:	n/a	n/a
20	SP4	chr15:40615376-40615859	H1-hESC	embryonic stem cell:	n/a	chr15:40615561-40615577 chr15:40615821-40615837
21	TCF12	chr15:40615319-40615931	ECC-1	luminal epithelium:	n/a	n/a
22	RCOR1	chr15:40615371-40615794	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr15:40615350-40615810	HepG2	liver:	n/a	n/a
24	MAX	chr15:40615314-40616070	SK-N-SH	brain:	n/a	n/a
25	MYC	chr15:40615263-40615825	H1-hESC	embryonic stem cell:	n/a	n/a
26	UBTF	chr15:40615366-40616866	K562	blood:	n/a	n/a
27	JUND	chr15:40615075-40616552	GM12878	blood:	n/a	chr15:40616113-40616122 chr15:40616478-40616487
28	JUN	chr15:40614979-40616024	K562	blood:	n/a	n/a
29	SP1	chr15:40615384-40615918	A549	lung:	n/a	chr15:40615521-40615530 chr15:40615822-40615831 chr15:40615821-40615833 chr15:40615822-40615831 chr15:40615519-40615531 chr15:40615821-40615833 chr15:40615823-40615832
30	SIN3AK20	chr15:40615285-40616201	PANC-1	pancreas:	n/a	n/a
31	MAX	chr15:40615271-40616070	HCT-116	colon:	n/a	n/a
32	RCOR1	chr15:40615375-40615934	K562	blood:	n/a	n/a
33	POLR2A	chr15:40614484-40615902	SK-N-MC	brain:	n/a	n/a
34	SIN3AK20	chr15:40615295-40615927	SK-N-SH	brain:	n/a	n/a
35	MAX	chr15:40615234-40616109	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr15:40615363-40615905	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr15:40615350-40616048	K562	blood:	n/a	n/a
38	SRF	chr15:40615353-40615927	MCF-7	breast:	n/a	n/a
39	MAX	chr15:40615288-40615980	A549	lung:	n/a	n/a
40	FOXP2	chr15:40615362-40615990	PFSK-1	brain:	n/a	n/a
41	ELF1	chr15:40615370-40616034	GM12878	blood:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
42	MAX	chr15:40615362-40616576	NB4	blood:	n/a	n/a
43	TEAD4	chr15:40615303-40615904	K562	blood:	n/a	n/a
44	MAX	chr15:40615376-40616062	Hela-S3	cervix:	n/a	n/a
45	MAX	chr15:40615259-40616089	H1-hESC	embryonic stem cell:	n/a	n/a
46	SP1	chr15:40615296-40616152	HCT-116	colon:	n/a	chr15:40615521-40615530 chr15:40615822-40615831 chr15:40615821-40615833 chr15:40615822-40615831 chr15:40615519-40615531 chr15:40615821-40615833 chr15:40615823-40615832
47	MAZ	chr15:40615379-40616025	K562	blood:	n/a	n/a
48	CTCF	chr15:40615306-40615908	K562	blood:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
49	EP300	chr15:40615360-40615808	HepG2	liver:	n/a	chr15:40615738-40615754 chr15:40615771-40615778 chr15:40615737-40615753
50	ELF1	chr15:40615270-40616038	GM12878	blood:	n/a	chr15:40615524-40615536 chr15:40615869-40615881

No.	Distal block	Cell Line	Cell type
1	chr15:40615161..40616254-chr15:40713827..40714847,4	K562	blood:
2	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
5	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
6	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
7	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
8	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
9	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
10	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
11	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:
12	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
13	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
14	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
15	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
16	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
17	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
18	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
19	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
20	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000230778	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000259288	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3378883	chr15:40614885-40617433	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3428901	chr15:40615210-40617508	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3438791	chr15:40615285-40617833	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40612400-40615600	Enhancers	Fetal Heart	heart
2	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
3	chr15:40614200-40615400	Enhancers	HMEC	breast
4	chr15:40614200-40615600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40614400-40615400	Enhancers	Spleen	Spleen
6	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr15:40614600-40615400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:40614600-40615400	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr15:40614600-40615400	Enhancers	NHDF-Ad	bronchial
11	chr15:40614600-40615600	Enhancers	Lung	lung
12	chr15:40614600-40615600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:40614600-40615600	Flanking Active TSS	NHEK	skin
14	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr15:40614800-40615400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr15:40614800-40615400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:40614800-40615400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr15:40614800-40615400	Enhancers	Liver	Liver
20	chr15:40614800-40615400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr15:40614800-40615400	Flanking Active TSS	Fetal Brain Female	brain
22	chr15:40614800-40615400	Enhancers	Ovary	ovary
23	chr15:40614800-40615400	Flanking Active TSS	NH-A	brain
24	chr15:40614800-40615600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:40614800-40615600	Enhancers	Stomach Mucosa	stomach
26	chr15:40614800-40616800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:40614800-40617000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr15:40614800-40617200	Active TSS	Gastric	stomach
29	chr15:40614800-40618200	Active TSS	Colon Smooth Muscle	Colon
30	chr15:40614800-40618400	Active TSS	Aorta	Aorta
31	chr15:40615000-40615400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:40615000-40615400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:40615000-40615400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:40615000-40615400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr15:40615000-40615400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr15:40615000-40615400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:40615000-40615600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr15:40615000-40615600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:40615000-40615600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:40615000-40615600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:40615000-40615600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr15:40615000-40615600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr15:40615000-40615600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:40615000-40615600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr15:40615000-40615600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr15:40615000-40615600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:40615000-40615600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:40615000-40615600	Flanking Active TSS	Dnd41	blood
49	chr15:40615000-40615600	Flanking Active TSS	HSMM	muscle
50	chr15:40615000-40615600	Enhancers	HUVEC	blood vessel

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