Variant report

Variant	rs571298851
Chromosome Location	chr11:17756235-17756236
allele	G/T
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	REST	chr11:17755718-17757700	HL-60	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
2	CTCF	chr11:17756100-17756253	HepG2	liver:	n/a	n/a
3	E2F6	chr11:17756232-17756413	K562	blood:	n/a	n/a
4	REST	chr11:17756072-17757061	HepG2	liver:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
5	TAF1	chr11:17755997-17756466	H1-neurons	neurons:	n/a	n/a
6	EBF1	chr11:17755961-17756262	GM12878	blood:	n/a	n/a
7	EGR1	chr11:17756028-17756381	H1-hESC	embryonic stem cell:	n/a	chr11:17756213-17756226 chr11:17756189-17756199 chr11:17756083-17756096 chr11:17756217-17756227 chr11:17756119-17756132
8	FOSL1	chr11:17755935-17756383	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr11:17756084-17757116	MCF-7	breast:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
10	REST	chr11:17756127-17757104	HepG2	liver:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
11	TEAD4	chr11:17756151-17756956	A549	lung:	n/a	n/a
12	MAZ	chr11:17755950-17757891	IMR90	lung:	n/a	chr11:17756890-17756900
13	MXI1	chr11:17755845-17757091	IMR90	lung:	n/a	n/a
14	CTCF	chr11:17756100-17756250	GM12874	blood:	n/a	n/a
15	REST	chr11:17755877-17757311	ECC-1	luminal epithelium:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
16	RAD21	chr11:17756122-17756287	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr11:17755688-17757535	H1-neurons	neurons:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
18	UBTF	chr11:17756209-17756893	K562	blood:	n/a	n/a
19	REST	chr11:17756089-17757165	H1-hESC	embryonic stem cell:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
20	POLR2A	chr11:17755939-17757343	H1-neurons	neurons:	n/a	n/a
21	CTCF	chr11:17756111-17756262	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr11:17756136-17757092	ECC-1	luminal epithelium:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
23	REST	chr11:17756107-17757188	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
24	CTCF	chr11:17756120-17756270	HUVEC	blood vessel:	n/a	chr11:17756255-17756268
25	BACH1	chr11:17756192-17756315	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr11:17755951-17756297	K562	blood:	n/a	chr11:17756213-17756226 chr11:17756189-17756199 chr11:17756083-17756096 chr11:17756217-17756227 chr11:17756119-17756132
27	REST	chr11:17755810-17757131	PFSK-1	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
28	REST	chr11:17756119-17756459	SK-N-SH	brain:	n/a	n/a
29	MAX	chr11:17756092-17756833	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr11:17756066-17756896	H1-hESC	embryonic stem cell:	n/a	chr11:17756218-17756227 chr11:17756586-17756596 chr11:17756810-17756819
31	REST	chr11:17755998-17757128	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
32	CTCF	chr11:17756120-17756270	SK-N-SH_RA	brain:	n/a	chr11:17756255-17756268
33	REST	chr11:17756113-17756851	K562	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
34	NRF1	chr11:17756143-17756431	H1-hESC	embryonic stem cell:	n/a	chr11:17756218-17756227
35	MYC	chr11:17756226-17756429	MCF-7	breast:	n/a	n/a
36	MAX	chr11:17756071-17756863	A549	lung:	n/a	n/a
37	REST	chr11:17755998-17757162	SK-N-SH	brain:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
38	REST	chr11:17756034-17757208	HL-60	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
39	REST	chr11:17756166-17757038	PANC-1	pancreas:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
40	REST	chr11:17756140-17756359	A549	lung:	n/a	n/a
41	E2F4	chr11:17756235-17756353	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF143	chr11:17756101-17756384	GM12878	blood:	n/a	n/a
43	CTCF	chr11:17756045-17756256	H1-hESC	embryonic stem cell:	n/a	chr11:17756054-17756064
44	CTCF	chr11:17756120-17756270	A549	lung:	n/a	chr11:17756255-17756268
45	MAX	chr11:17756170-17757039	ECC-1	luminal epithelium:	n/a	chr11:17756890-17756900
46	RCOR1	chr11:17755899-17756985	IMR90	lung:	n/a	n/a
47	REST	chr11:17756149-17756976	HCT-116	colon:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
48	REST	chr11:17756030-17757181	A549	lung:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17757074-17757084 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673
49	ZBTB7A	chr11:17755995-17756438	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr11:17756089-17757038	GM12878	blood:	n/a	chr11:17756665-17756685 chr11:17756650-17756660 chr11:17756654-17756663 chr11:17756665-17756685 chr11:17756665-17756679 chr11:17756655-17756673

Variant related genes	Relation type
KCNC1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1038119	chr11:17744915-17794577	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv1793678	chr11:17745099-17786436	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv521511	chr11:17749028-17771487	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3405723	chr11:17755401-17758149	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	esv3413144	chr11:17755501-17757724	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17755600-17756400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:17755600-17756400	Enhancers	Fetal Brain Male	brain
3	chr11:17755600-17757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:17755600-17757800	Enhancers	Fetal Heart	heart
5	chr11:17755800-17756400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:17755800-17756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:17755800-17756400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:17755800-17756400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
9	chr11:17755800-17756600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:17755800-17756600	Active TSS	Brain Germinal Matrix	brain
11	chr11:17755800-17756800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:17755800-17757000	Flanking Active TSS	Right Ventricle	heart
13	chr11:17755800-17757200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:17755800-17757400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr11:17755800-17757600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:17755800-17757600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17755800-17757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:17755800-17757600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:17755800-17757600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:17755800-17757800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:17755800-17757800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:17755800-17757800	Active TSS	Fetal Brain Female	brain
23	chr11:17755800-17757800	Bivalent Enhancer	Lung	lung
24	chr11:17755800-17758000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:17755800-17758000	Bivalent Enhancer	Esophagus	oesophagus
26	chr11:17755800-17761200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr11:17756000-17756400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:17756000-17756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr11:17756000-17756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:17756000-17756400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr11:17756000-17756400	Bivalent/Poised TSS	HepG2	liver
32	chr11:17756000-17756400	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr11:17756000-17756600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:17756000-17756600	Active TSS	Colon Smooth Muscle	Colon
35	chr11:17756000-17756600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr11:17756000-17756800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:17756000-17757000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:17756000-17757000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:17756000-17757000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:17756000-17757200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:17756000-17757200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:17756000-17757200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:17756000-17757200	Active TSS	HSMMtube	muscle
44	chr11:17756000-17757200	Active TSS	NH-A	brain
45	chr11:17756000-17757600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:17756000-17757600	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:17756000-17757600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:17756000-17757800	Bivalent Enhancer	Spleen	Spleen
49	chr11:17756000-17757800	Active TSS	HSMM	muscle
50	chr11:17756000-17758400	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links