Variant report

Variant	rs531332004
Chromosome Location	chr11:57364742-57364743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57363269..57366608-chr11:57366625..57370345,5	K562	blood:
2	chr11:57280138..57282809-chr11:57363760..57366213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction
ENSG00000149131	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv897588	chr11:57364381-57373478	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57358600-57365000	Weak transcription	Pancreas	Pancrea
2	chr11:57363000-57365400	Weak transcription	Fetal Thymus	thymus
3	chr11:57363200-57365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:57364000-57364800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:57364000-57364800	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:57364000-57365200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:57364200-57364800	Enhancers	Fetal Stomach	stomach
8	chr11:57364200-57365200	Weak transcription	Lung	lung
9	chr11:57364400-57364800	Flanking Active TSS	Liver	Liver
10	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:57364600-57364800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:57364600-57364800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57364600-57364800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:57364600-57364800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr11:57364600-57364800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:57364600-57364800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
17	chr11:57364600-57364800	Flanking Active TSS	Right Atrium	heart
18	chr11:57364600-57364800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr11:57364600-57364800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:57364600-57364800	Enhancers	NHDF-Ad	bronchial
21	chr11:57364600-57365000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:57364600-57365000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:57364600-57365000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57364600-57365000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:57364600-57365000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:57364600-57365000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:57364600-57365000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:57364600-57365000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:57364600-57365000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:57364600-57365000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:57364600-57365000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:57364600-57365000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:57364600-57365000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:57364600-57365000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:57364600-57365000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:57364600-57365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:57364600-57365000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr11:57364600-57365000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:57364600-57365000	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr11:57364600-57365000	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr11:57364600-57365000	Flanking Active TSS	Fetal Kidney	kidney
42	chr11:57364600-57365000	Flanking Active TSS	HepG2	liver
43	chr11:57364600-57365000	Flanking Active TSS	Osteobl	bone
44	chr11:57364600-57365200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:57364600-57365200	Flanking Active TSS	Fetal Lung	lung
46	chr11:57364600-57365200	Enhancers	Placenta	Placenta
47	chr11:57364600-57365200	Flanking Active TSS	NHLF	lung
48	chr11:57364600-57365400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:57364600-57365400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:57364600-57366000	Active TSS	H1 Cell Line	embryonic stem cell

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