Variant report

Variant	rs531120704
Chromosome Location	chr11:17756069-17756070
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	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	TAF1	chr11:17755997-17756466	H1-neurons	neurons:	n/a	n/a
3	EBF1	chr11:17755961-17756262	GM12878	blood:	n/a	n/a
4	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
5	FOSL1	chr11:17755935-17756383	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr11:17755950-17757891	IMR90	lung:	n/a	chr11:17756890-17756900
7	MXI1	chr11:17755845-17757091	IMR90	lung:	n/a	n/a
8	CTCF	chr11:17756040-17756190	SK-N-SH_RA	brain:	n/a	chr11:17756054-17756064
9	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
10	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
11	POLR2A	chr11:17755939-17757343	H1-neurons	neurons:	n/a	n/a
12	EGR1	chr11:17755951-17756297	K562	blood:	n/a	chr11:17756213-17756226 chr11:17756189-17756199 chr11:17756083-17756096 chr11:17756217-17756227 chr11:17756119-17756132
13	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
14	E2F6	chr11:17756066-17756896	H1-hESC	embryonic stem cell:	n/a	chr11:17756218-17756227 chr11:17756586-17756596 chr11:17756810-17756819
15	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
16	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
17	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
18	CTCF	chr11:17756045-17756256	H1-hESC	embryonic stem cell:	n/a	chr11:17756054-17756064
19	RCOR1	chr11:17755899-17756985	IMR90	lung:	n/a	n/a
20	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
21	ZBTB7A	chr11:17755995-17756438	ECC-1	luminal epithelium:	n/a	n/a
22	ZBTB7A	chr11:17756001-17756411	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr11:17755462-17757805	SK-N-SH	brain:	n/a	n/a
24	REST	chr11:17756043-17757121	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
25	REST	chr11:17755975-17757180	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
26	NRF1	chr11:17756045-17756658	SK-N-SH	brain:	n/a	chr11:17756058-17756067 chr11:17756218-17756227
27	ZNF143	chr11:17756044-17756869	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:17755965-17757203	H1-neurons	neurons:	n/a	n/a
29	FOSL1	chr11:17756060-17756375	H1-hESC	embryonic stem cell:	n/a	n/a

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17755000-17756200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:17755400-17756200	Bivalent Enhancer	Placenta	Placenta
3	chr11:17755400-17756200	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr11:17755600-17756200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:17755600-17756400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:17755600-17756400	Enhancers	Fetal Brain Male	brain
7	chr11:17755600-17757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:17755600-17757800	Enhancers	Fetal Heart	heart
9	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:17755800-17756200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr11:17755800-17756200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:17755800-17756200	Enhancers	Liver	Liver
15	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
16	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr11:17755800-17756200	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr11:17755800-17756200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr11:17755800-17756200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr11:17755800-17756200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr11:17755800-17756200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr11:17755800-17756400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:17755800-17756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:17755800-17756400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr11:17755800-17756400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
26	chr11:17755800-17756600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:17755800-17756600	Active TSS	Brain Germinal Matrix	brain
28	chr11:17755800-17756800	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:17755800-17757000	Flanking Active TSS	Right Ventricle	heart
30	chr11:17755800-17757200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:17755800-17757400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr11:17755800-17757600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr11:17755800-17757600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:17755800-17757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:17755800-17757600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:17755800-17757600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:17755800-17757800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:17755800-17757800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:17755800-17757800	Active TSS	Fetal Brain Female	brain
40	chr11:17755800-17757800	Bivalent Enhancer	Lung	lung
41	chr11:17755800-17758000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:17755800-17758000	Bivalent Enhancer	Esophagus	oesophagus
43	chr11:17755800-17761200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr11:17756000-17756200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:17756000-17756200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:17756000-17756200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:17756000-17756200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:17756000-17756200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:17756000-17756200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:17756000-17756200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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