Variant report

Variant	rs3223030
Chromosome Location	chr11:17755812-17755813
allele	(CA)12/20/21/22/23/24/25/26/27
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	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
4	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17754600-17756000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
2	chr11:17755000-17756200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:17755400-17756000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:17755400-17756000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:17755400-17756000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:17755400-17756000	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr11:17755400-17756000	Enhancers	Psoas Muscle	Psoas
8	chr11:17755400-17756200	Bivalent Enhancer	Placenta	Placenta
9	chr11:17755400-17756200	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr11:17755600-17756000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:17755600-17756000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:17755600-17756000	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr11:17755600-17756000	Bivalent Enhancer	Fetal Stomach	stomach
14	chr11:17755600-17756000	Enhancers	Ovary	ovary
15	chr11:17755600-17756000	Enhancers	Pancreas	Pancrea
16	chr11:17755600-17756000	Enhancers	Right Atrium	heart
17	chr11:17755600-17756200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:17755600-17756400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:17755600-17756400	Enhancers	Fetal Brain Male	brain
20	chr11:17755600-17757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:17755600-17757800	Enhancers	Fetal Heart	heart
22	chr11:17755800-17756000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:17755800-17756000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr11:17755800-17756000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:17755800-17756000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:17755800-17756000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:17755800-17756000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:17755800-17756000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr11:17755800-17756000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:17755800-17756000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:17755800-17756000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:17755800-17756000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr11:17755800-17756000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:17755800-17756000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:17755800-17756000	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr11:17755800-17756000	Enhancers	Aorta	Aorta
37	chr11:17755800-17756000	Enhancers	Brain Anterior Caudate	brain
38	chr11:17755800-17756000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:17755800-17756000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17755800-17756000	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr11:17755800-17756000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:17755800-17756000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr11:17755800-17756000	Bivalent Enhancer	Fetal Lung	lung
44	chr11:17755800-17756000	Enhancers	Gastric	stomach
45	chr11:17755800-17756000	Enhancers	Left Ventricle	heart
46	chr11:17755800-17756000	Flanking Active TSS	HSMM	muscle
47	chr11:17755800-17756000	Flanking Active TSS	HSMMtube	muscle
48	chr11:17755800-17756000	Bivalent Enhancer	NH-A	brain
49	chr11:17755800-17756000	Bivalent Enhancer	Osteobl	bone
50	chr11:17755800-17756200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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