Variant report

Variant	rs544220965
Chromosome Location	chr11:57298004-57298005
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
2	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
3	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
4	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
5	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
6	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
7	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
8	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
9	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
10	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
11	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
12	chr11:57225517..57229165-chr11:57295790..57298188,3	K562	blood:
13	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
14	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134802	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000214872	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr11:57296800-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:57296800-57298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:57297000-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:57297200-57298200	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:57297200-57299000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:57297200-57299200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:57297200-57299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:57297200-57299200	Flanking Active TSS	HUVEC	blood vessel
10	chr11:57297400-57298200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:57297400-57298200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:57297400-57298200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:57297400-57298600	Active TSS	HSMMtube	muscle
14	chr11:57297400-57299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:57297400-57299000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:57297400-57299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:57297400-57299200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:57297400-57299400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:57297400-57299400	Active TSS	A549	lung
20	chr11:57297600-57298200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:57297600-57298200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr11:57297600-57298800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:57297600-57298800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57297600-57298800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:57297600-57298800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:57297600-57298800	Active TSS	Aorta	Aorta
27	chr11:57297600-57299000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:57297600-57299000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:57297600-57299000	Bivalent/Poised TSS	HepG2	liver
30	chr11:57297600-57299000	Active TSS	K562	blood
31	chr11:57297600-57299200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:57297600-57299200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:57297600-57299200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:57297600-57299200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:57297600-57299400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:57297600-57299400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:57297800-57298600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:57297800-57298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:57297800-57298600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:57297800-57298600	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr11:57297800-57298600	Active TSS	Hela-S3	cervix
42	chr11:57297800-57298800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:57297800-57298800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:57297800-57298800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:57297800-57298800	Active TSS	Brain Anterior Caudate	brain
46	chr11:57297800-57298800	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:57297800-57298800	Active TSS	Brain Germinal Matrix	brain
48	chr11:57297800-57298800	Active TSS	Brain Hippocampus Middle	brain
49	chr11:57297800-57298800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:57297800-57298800	Active TSS	Duodenum Smooth Muscle	Duodenum

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