Variant report

Variant	rs554469130
Chromosome Location	chr11:47447662-47447663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
2	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
3	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
4	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
5	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
6	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:

Variant related genes	Relation type
ENSG00000149182	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000252327	Chromatin interaction
ENSG00000165917	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
10	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47446200-47447800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:47446600-47447800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:47446600-47448000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:47446600-47448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:47446600-47449000	Active TSS	Psoas Muscle	Psoas
6	chr11:47446800-47448400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:47446800-47448400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:47446800-47448400	Active TSS	Small Intestine	intestine
9	chr11:47446800-47448600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:47446800-47448600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:47447000-47448400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47447000-47448400	Active TSS	Aorta	Aorta
13	chr11:47447000-47448600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:47447000-47448600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47447000-47448600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:47447000-47448600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:47447000-47448600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:47447000-47448800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47447000-47448800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47447000-47448800	Active TSS	Esophagus	oesophagus
23	chr11:47447000-47448800	Active TSS	Gastric	stomach
24	chr11:47447000-47448800	Active TSS	NHLF	lung
25	chr11:47447000-47449000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:47447000-47449000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:47447000-47449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:47447000-47449000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr11:47447000-47449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:47447000-47449000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:47447000-47449000	Active TSS	Fetal Kidney	kidney
32	chr11:47447000-47449000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:47447000-47449000	Active TSS	Left Ventricle	heart
34	chr11:47447000-47449000	Active TSS	Lung	lung
35	chr11:47447000-47449000	Active TSS	Ovary	ovary
36	chr11:47447000-47449000	Active TSS	Pancreas	Pancrea
37	chr11:47447000-47449000	Active TSS	A549	lung
38	chr11:47447000-47449000	Active TSS	NHDF-Ad	bronchial
39	chr11:47447000-47449200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:47447200-47447800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:47447200-47448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:47447200-47448200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:47447200-47448400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:47447200-47448600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:47447200-47448600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:47447200-47448600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:47447200-47448600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:47447200-47448600	Active TSS	Fetal Heart	heart
49	chr11:47447200-47448600	Active TSS	Fetal Lung	lung
50	chr11:47447200-47448600	Active TSS	Sigmoid Colon	Sigmoid Colon

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