Variant report

Variant	rs369281472
Chromosome Location	chr11:47446890-47446891
allele	C/T
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
ENSG00000110514	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000252327	Chromatin interaction
ENSG00000264583	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	chr11:47445400-47447000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:47445400-47447000	Genic enhancers	Spleen	Spleen
4	chr11:47445400-47447000	Transcr. at gene 5' and 3'	Hela-S3	cervix
5	chr11:47445600-47447000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47445600-47447000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:47445800-47447000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:47445800-47447000	Genic enhancers	Placenta	Placenta
9	chr11:47445800-47447400	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr11:47446000-47447000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:47446000-47447000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:47446000-47447000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
13	chr11:47446000-47447200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr11:47446200-47447000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47446200-47447000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:47446200-47447000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:47446200-47447000	Enhancers	Left Ventricle	heart
18	chr11:47446200-47447000	Transcr. at gene 5' and 3'	HSMM	muscle
19	chr11:47446200-47447800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr11:47446400-47447000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
21	chr11:47446400-47447000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:47446400-47447000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:47446400-47447000	Enhancers	Gastric	stomach
24	chr11:47446400-47447000	Transcr. at gene 5' and 3'	K562	blood
25	chr11:47446400-47447000	Transcr. at gene 5' and 3'	NHLF	lung
26	chr11:47446400-47447200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:47446400-47447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:47446400-47447200	Transcr. at gene 5' and 3'	HepG2	liver
29	chr11:47446400-47447400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:47446400-47447400	Flanking Active TSS	HUVEC	blood vessel
31	chr11:47446400-47447600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:47446600-47447000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:47446600-47447000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:47446600-47447000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr11:47446600-47447000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
37	chr11:47446600-47447000	Weak transcription	Aorta	Aorta
38	chr11:47446600-47447000	Enhancers	Esophagus	oesophagus
39	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr11:47446600-47447000	Flanking Active TSS	Fetal Kidney	kidney
41	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
42	chr11:47446600-47447000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
45	chr11:47446600-47447000	Transcr. at gene 5' and 3'	A549	lung
46	chr11:47446600-47447000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:47446600-47447000	Transcr. at gene 5' and 3'	NHEK	skin
48	chr11:47446600-47447200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr11:47446600-47447200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:47446600-47447200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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