Variant report

Variant	rs574317001
Chromosome Location	chr15:40615219-40615220
allele	A/C
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	chr15:40615181-40616130	HCT-116	colon:	n/a	n/a
2	SIN3AK20	chr15:40615093-40615953	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:40615217-40616166	H1-neurons	neurons:	n/a	n/a
4	JUND	chr15:40614913-40616036	SK-N-SH	brain:	n/a	n/a
5	JUND	chr15:40615075-40616552	GM12878	blood:	n/a	chr15:40616113-40616122 chr15:40616478-40616487
6	JUN	chr15:40614979-40616024	K562	blood:	n/a	n/a
7	E2F6	chr15:40615173-40615336	K562	blood:	n/a	n/a
8	CTCF	chr15:40615140-40615290	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:40614484-40615902	SK-N-MC	brain:	n/a	n/a
10	CTCF	chr15:40615140-40615290	BE2_C	brain:	n/a	n/a
11	RFX5	chr15:40615181-40615233	HepG2	liver:	n/a	n/a
12	MXI1	chr15:40615218-40616003	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:40615151-40616626	MCF-7	breast:	n/a	n/a
14	MTA3	chr15:40615130-40615870	GM12878	blood:	n/a	n/a
15	HCFC1	chr15:40614563-40616031	Hela-S3	cervix:	n/a	n/a
16	E2F6	chr15:40614569-40616609	H1-hESC	embryonic stem cell:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40616595-40616605 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616477-40616486 chr15:40616070-40616080
17	MAX	chr15:40615217-40616076	ECC-1	luminal epithelium:	n/a	n/a
18	RCOR1	chr15:40614508-40616022	IMR90	lung:	n/a	n/a
19	E2F6	chr15:40615209-40616745	K562	blood:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40616595-40616605 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616477-40616486 chr15:40616070-40616080
20	CTCF	chr15:40615195-40616130	SK-N-SH	brain:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
21	MAZ	chr15:40614373-40617806	IMR90	lung:	n/a	chr15:40614503-40614513 chr15:40617461-40617470
22	MAX	chr15:40614667-40616807	HepG2	liver:	n/a	n/a
23	E2F6	chr15:40615058-40616225	H1-hESC	embryonic stem cell:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615881-40615896 chr15:40615523-40615532 chr15:40616070-40616080
24	MAX	chr15:40615177-40616634	HepG2	liver:	n/a	n/a
25	MXI1	chr15:40615137-40617187	SK-N-SH	brain:	n/a	n/a
26	SIN3A	chr15:40614717-40617191	H1-hESC	embryonic stem cell:	n/a	chr15:40615806-40615817 chr15:40615521-40615532
27	REST	chr15:40614987-40616555	H1-neurons	neurons:	n/a	chr15:40615818-40615831 chr15:40615046-40615054 chr15:40615388-40615401 chr15:40615170-40615179
28	CTCF	chr15:40615200-40615350	GM12875	blood:	n/a	n/a
29	CTBP2	chr15:40614278-40615958	H1-hESC	embryonic stem cell:	n/a	n/a
30	HMGN3	chr15:40615128-40616989	K562	blood:	n/a	n/a
31	MXI1	chr15:40614955-40616586	IMR90	lung:	n/a	n/a

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
ENSG00000140320	Chromatin interaction
ENSG00000259288	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000169105	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

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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