Variant report

Variant	rs539274586
Chromosome Location	chr11:47447191-47447192
allele	A/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	chr11:47420268..47423188-chr11:47445332..47447348,2	K562	blood:
4	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
5	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
6	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
7	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:

Variant related genes	Relation type
ENSG00000264583	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000252327	Chromatin interaction
ENSG00000110514	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	chr11:47431200-47447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47445800-47447400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:47446000-47447200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr11:47446200-47447800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr11:47446400-47447200	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:47446400-47447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:47446400-47447200	Transcr. at gene 5' and 3'	HepG2	liver
8	chr11:47446400-47447400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr11:47446400-47447400	Flanking Active TSS	HUVEC	blood vessel
10	chr11:47446400-47447600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:47446600-47447200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr11:47446600-47447200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:47446600-47447200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:47446600-47447400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:47446600-47447400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr11:47446600-47447400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:47446600-47447400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:47446600-47447400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr11:47446600-47447400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:47446600-47447400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:47446600-47447400	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:47446600-47447400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr11:47446600-47447400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:47446600-47447400	Flanking Active TSS	HMEC	breast
25	chr11:47446600-47447600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:47446600-47447600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:47446600-47447800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:47446600-47448000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:47446600-47448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:47446600-47449000	Active TSS	Psoas Muscle	Psoas
31	chr11:47446800-47447200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47446800-47447200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:47446800-47447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:47446800-47447200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:47446800-47447200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:47446800-47447200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:47446800-47447200	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr11:47446800-47447200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr11:47446800-47447200	Flanking Active TSS	Fetal Brain Female	brain
40	chr11:47446800-47447200	Flanking Active TSS	Fetal Heart	heart
41	chr11:47446800-47447200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr11:47446800-47447200	Flanking Active TSS	Fetal Lung	lung
43	chr11:47446800-47447200	Flanking Active TSS	Right Atrium	heart
44	chr11:47446800-47447200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr11:47446800-47447200	Flanking Active TSS	HSMMtube	muscle
46	chr11:47446800-47447200	Flanking Active TSS	NH-A	brain
47	chr11:47446800-47447400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:47446800-47447400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:47446800-47447400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:47446800-47447400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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