Variant report

Variant	rs550046482
Chromosome Location	chr8:11323415-11323416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
2	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
3	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
4	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
5	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11319400-11323600	Enhancers	Gastric	stomach
2	chr8:11320000-11323800	Enhancers	Liver	Liver
3	chr8:11321400-11323600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:11321600-11323600	Enhancers	Esophagus	oesophagus
5	chr8:11321600-11323600	Flanking Active TSS	NHEK	skin
6	chr8:11321600-11323800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr8:11321600-11324000	Enhancers	Left Ventricle	heart
8	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:11321800-11323600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr8:11321800-11323600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:11321800-11323600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr8:11321800-11323600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr8:11321800-11323800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr8:11322000-11323800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:11322000-11324000	Enhancers	Fetal Heart	heart
16	chr8:11322000-11324400	Bivalent Enhancer	Fetal Brain Male	brain
17	chr8:11322000-11324600	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:11322200-11323600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:11322200-11323800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:11322200-11323800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr8:11322400-11323600	Enhancers	Right Ventricle	heart
22	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain
23	chr8:11322600-11323600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr8:11322600-11323600	Bivalent Enhancer	Fetal Lung	lung
25	chr8:11322600-11323600	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr8:11322600-11323800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:11322600-11323800	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr8:11322800-11323600	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr8:11322800-11323600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr8:11322800-11323800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:11322800-11323800	Flanking Active TSS	Osteobl	bone
32	chr8:11322800-11324000	Flanking Active TSS	GM12878-XiMat	blood
33	chr8:11322800-11324200	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr8:11323000-11323600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr8:11323000-11323600	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr8:11323000-11323600	Flanking Active TSS	A549	lung
37	chr8:11323000-11323800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:11323000-11324000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr8:11323000-11324600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:11323000-11324800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr8:11323000-11324800	Active TSS	Brain Substantia Nigra	brain
42	chr8:11323000-11325200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:11323000-11325200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr8:11323000-11325400	Active TSS	Brain Angular Gyrus	brain
45	chr8:11323000-11325400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr8:11323200-11323600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:11323200-11323600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr8:11323200-11323600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:11323200-11323600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:11323200-11323600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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