Variant report

Variant	rs563697218
Chromosome Location	chr11:17755738-17755739
allele	A/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	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	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
3	MXI1	chr11:17755462-17757805	SK-N-SH	brain:	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17752800-17755800	Weak transcription	HSMM	muscle
2	chr11:17754200-17755800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr11:17754600-17755800	Enhancers	HSMMtube	muscle
4	chr11:17754600-17756000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr11:17755000-17755800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:17755000-17756200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:17755200-17755800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
8	chr11:17755200-17755800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr11:17755400-17755800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:17755400-17755800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:17755400-17755800	Enhancers	Right Ventricle	heart
12	chr11:17755400-17756000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:17755400-17756000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:17755400-17756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:17755400-17756000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr11:17755400-17756000	Enhancers	Psoas Muscle	Psoas
17	chr11:17755400-17756200	Bivalent Enhancer	Placenta	Placenta
18	chr11:17755400-17756200	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:17755600-17755800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:17755600-17755800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:17755600-17755800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:17755600-17755800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:17755600-17755800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:17755600-17755800	Bivalent Enhancer	Liver	Liver
25	chr11:17755600-17755800	Bivalent Enhancer	Colon Smooth Muscle	Colon
26	chr11:17755600-17755800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr11:17755600-17755800	Flanking Active TSS	Fetal Brain Female	brain
28	chr11:17755600-17755800	Bivalent Enhancer	Fetal Kidney	kidney
29	chr11:17755600-17755800	Enhancers	Lung	lung
30	chr11:17755600-17755800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr11:17755600-17755800	Bivalent Enhancer	HUVEC	blood vessel
32	chr11:17755600-17756000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:17755600-17756000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:17755600-17756000	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr11:17755600-17756000	Bivalent Enhancer	Fetal Stomach	stomach
36	chr11:17755600-17756000	Enhancers	Ovary	ovary
37	chr11:17755600-17756000	Enhancers	Pancreas	Pancrea
38	chr11:17755600-17756000	Enhancers	Right Atrium	heart
39	chr11:17755600-17756200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:17755600-17756400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:17755600-17756400	Enhancers	Fetal Brain Male	brain
42	chr11:17755600-17757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:17755600-17757800	Enhancers	Fetal Heart	heart

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