Variant report

Variant	rs11649801
Chromosome Location	chr17:46724912-46724913
allele	C/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	chr17:46724644-46725047	K562	blood:	n/a	n/a
2	IRF1	chr17:46724846-46725269	K562	blood:	n/a	chr17:46725053-46725067 chr17:46725052-46725065 chr17:46725051-46725058 chr17:46725053-46725063 chr17:46725049-46725063 chr17:46725047-46725064 chr17:46725052-46725065 chr17:46725052-46725064 chr17:46725051-46725071 chr17:46725049-46725066 chr17:46725052-46725066 chr17:46725051-46725065 chr17:46725052-46725063 chr17:46725052-46725065
3	GABPA	chr17:46724723-46724987	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr17:46723866-46725210	A549	lung:	n/a	chr17:46724741-46724753 chr17:46724707-46724721 chr17:46724742-46724751 chr17:46724710-46724722 chr17:46724741-46724753 chr17:46724710-46724722
5	BCL3	chr17:46724493-46725326	A549	lung:	n/a	chr17:46725054-46725063 chr17:46724845-46724858
6	POLR2A	chr17:46722530-46725520	PANC-1	pancreas:	n/a	n/a
7	ZBTB7A	chr17:46724625-46724914	K562	blood:	n/a	chr17:46724747-46724756
8	YY1	chr17:46724750-46724976	K562	blood:	n/a	chr17:46724843-46724854
9	ATF3	chr17:46724460-46725051	A549	lung:	n/a	n/a
10	POLR2A	chr17:46724587-46725017	A549	lung:	n/a	n/a
11	SIN3AK20	chr17:46723163-46725109	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr17:46724628-46725250	K562	blood:	n/a	n/a
13	EGR1	chr17:46724653-46725012	K562	blood:	n/a	chr17:46724830-46724843 chr17:46724745-46724755 chr17:46724743-46724756
14	CTBP2	chr17:46723322-46725012	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:46723784-46725086	HCT-116	colon:	n/a	n/a
16	MAX	chr17:46722708-46725666	A549	lung:	n/a	chr17:46723121-46723130 chr17:46723879-46723888 chr17:46724711-46724721 chr17:46722824-46722834 chr17:46725236-46725246
17	UBTF	chr17:46724707-46725003	K562	blood:	n/a	n/a
18	MAX	chr17:46724741-46725054	K562	blood:	n/a	n/a
19	UBTF	chr17:46724830-46725022	K562	blood:	n/a	n/a
20	TCF7L2	chr17:46723478-46725040	HCT-116	colon:	n/a	n/a
21	ESRRA	chr17:46723585-46725678	GM12878	blood:	n/a	chr17:46725253-46725266 chr17:46724752-46724765
22	POLR2A	chr17:46724799-46725165	K562	blood:	n/a	n/a
23	RCOR1	chr17:46724792-46724969	K562	blood:	n/a	n/a
24	POLR2A	chr17:46724695-46724941	A549	lung:	n/a	n/a
25	ZNF143	chr17:46724834-46725521	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr17:46724814-46725237	K562	blood:	n/a	n/a
27	POLR2A	chr17:46724517-46725035	HCT-116	colon:	n/a	n/a
28	MYC	chr17:46724757-46724957	K562	blood:	n/a	n/a
29	MAZ	chr17:46723921-46724932	K562	blood:	n/a	chr17:46724711-46724721
30	YY1	chr17:46724524-46724984	HCT-116	colon:	n/a	chr17:46724843-46724854
31	POLR2A	chr17:46724663-46724967	A549	lung:	n/a	n/a
32	E2F6	chr17:46724723-46724960	K562	blood:	n/a	chr17:46724864-46724876 chr17:46724762-46724774
33	POLR2A	chr17:46723212-46725478	HCT-116	colon:	n/a	n/a
34	CTCF	chr17:46724900-46725050	HepG2	liver:	n/a	n/a
35	MAX	chr17:46722803-46725460	A549	lung:	n/a	chr17:46723121-46723130 chr17:46723879-46723888 chr17:46724711-46724721 chr17:46722824-46722834 chr17:46725236-46725246
36	POLR2A	chr17:46723668-46725261	GM19099	blood:	n/a	n/a
37	TCF12	chr17:46722658-46725526	A549	lung:	n/a	chr17:46725205-46725213 chr17:46723577-46723585
38	POLR2A	chr17:46721618-46725581	PANC-1	pancreas:	n/a	n/a
39	EGR1	chr17:46724585-46725006	H1-hESC	embryonic stem cell:	n/a	chr17:46724830-46724843 chr17:46724745-46724755 chr17:46724743-46724756
40	CTCF	chr17:46724820-46724970	GM12864	blood:	n/a	chr17:46724892-46724905

Variant related genes	Relation type
ENSG00000272763	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1057201	0.82[AFR][1000 genomes]
rs11870669	0.89[ASN][1000 genomes]
rs12942096	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326017	0.83[CHB][hapmap]
rs28828688	0.80[ASN][1000 genomes]
rs3744772	0.83[CHB][hapmap]
rs3744773	0.86[ASN][1000 genomes]
rs718079	0.88[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs731748	0.81[AFR][1000 genomes]
rs890435	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs972705	0.80[ASN][1000 genomes]
rs9900979	0.90[ASN][1000 genomes]
rs9905361	0.80[ASN][1000 genomes]
rs9912849	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
3	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
4	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
5	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
7	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
8	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46722000-46725400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46722400-46725200	Active TSS	A549	lung
3	chr17:46722600-46725400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr17:46722800-46725000	Bivalent/Poised TSS	Small Intestine	intestine
5	chr17:46723000-46725400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:46723000-46725400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr17:46723400-46725000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr17:46723400-46725200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:46723400-46725200	Bivalent/Poised TSS	HSMM	muscle
10	chr17:46723600-46725000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr17:46723600-46725200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:46723600-46725200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr17:46723600-46725200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
14	chr17:46723600-46725400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr17:46723600-46725400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:46723600-46725400	Enhancers	Pancreas	Pancrea
17	chr17:46723800-46725000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:46723800-46725200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr17:46724000-46725000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr17:46724000-46725000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr17:46724000-46725000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr17:46724000-46725000	Active TSS	Right Atrium	heart
23	chr17:46724000-46725200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:46724000-46725200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr17:46724000-46725400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr17:46724200-46725000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
27	chr17:46724400-46725000	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr17:46724400-46725000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr17:46724400-46725400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:46724400-46725400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr17:46724600-46725000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr17:46724600-46725000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
33	chr17:46724600-46725000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr17:46724600-46725000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:46724600-46725000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:46724600-46725000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:46724600-46725000	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr17:46724600-46725000	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr17:46724600-46725000	Bivalent/Poised TSS	HepG2	liver
40	chr17:46724600-46725000	Bivalent Enhancer	NHEK	skin
41	chr17:46724600-46725200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:46724600-46725200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr17:46724600-46725200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:46724600-46725200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:46724600-46725200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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