Variant report

Variant	rs540164408
Chromosome Location	chr11:64146214-64146215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64138832..64141064-chr11:64144568..64147426,2	K562	blood:
2	chr11:64125356..64127371-chr11:64145255..64147787,2	MCF-7	breast:
3	chr11:64139080..64141620-chr11:64144256..64148089,4	MCF-7	breast:
4	chr11:64136140..64139047-chr11:64144668..64147875,3	MCF-7	breast:
5	chr11:64126463..64128079-chr11:64145484..64147354,2	MCF-7	breast:
6	chr11:64146057..64148116-chr11:64151039..64152663,2	K562	blood:
7	chr11:64144008..64147630-chr11:64148527..64151012,3	K562	blood:
8	chr11:64146057..64148574-chr11:64151163..64153130,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
2	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
4	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
5	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer 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	179 gene(s)	inside rSNPs	diseases
6	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
7	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
9	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
11	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	esv3404275	chr11:64145276-64149574	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3352534	chr11:64145876-64149174	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64127800-64146800	Weak transcription	Fetal Heart	heart
2	chr11:64134400-64150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:64135600-64148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64138200-64147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64138200-64151600	Weak transcription	Left Ventricle	heart
7	chr11:64139600-64147400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:64139600-64148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:64139800-64147400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:64140000-64148000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:64140000-64148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:64140000-64152800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:64141000-64146400	Weak transcription	Spleen	Spleen
14	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:64143600-64147400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:64145000-64146800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:64145400-64147000	Enhancers	Fetal Brain Male	brain
18	chr11:64145600-64146400	Enhancers	Brain Hippocampus Middle	brain
19	chr11:64145600-64146400	Enhancers	Colon Smooth Muscle	Colon
20	chr11:64145800-64146400	Enhancers	Brain Substantia Nigra	brain
21	chr11:64145800-64146400	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:64145800-64146400	Enhancers	HSMMtube	muscle
23	chr11:64145800-64146600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr11:64145800-64146600	Enhancers	Adipose Nuclei	Adipose
25	chr11:64145800-64146600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:64145800-64146600	Enhancers	Osteobl	bone
27	chr11:64145800-64146800	Bivalent Enhancer	Fetal Stomach	stomach
28	chr11:64145800-64147600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:64146000-64146400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:64146000-64146400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:64146000-64146400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:64146000-64146400	Enhancers	Right Ventricle	heart
33	chr11:64146000-64146600	Enhancers	Fetal Muscle Leg	muscle
34	chr11:64146000-64146600	Enhancers	Pancreas	Pancrea
35	chr11:64146000-64147000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:64146000-64147000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr11:64146000-64147000	Flanking Active TSS	NHEK	skin
38	chr11:64146000-64147200	Enhancers	Fetal Thymus	thymus
39	chr11:64146000-64147400	Enhancers	HMEC	breast
40	chr11:64146200-64146400	Enhancers	Gastric	stomach
41	chr11:64146200-64146400	Enhancers	Right Atrium	heart
42	chr11:64146200-64146400	Bivalent Enhancer	NHDF-Ad	bronchial
43	chr11:64146200-64146600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:64146200-64146800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:64146200-64146800	Enhancers	Ovary	ovary
46	chr11:64146200-64147000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:64146200-64147000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:64146200-64147800	Enhancers	Esophagus	oesophagus

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