Variant report

Variant	rs547946224
Chromosome Location	chr8:99439956-99439957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034492	chr8:99436341-99456516	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3411915	chr8:99438076-99441174	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3340095	chr8:99438601-99441149	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99438000-99440200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:99438000-99440600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:99438000-99440600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:99438000-99441200	ZNF genes & repeats	Spleen	Spleen
5	chr8:99438200-99440200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:99438400-99440400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:99438400-99440400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:99438400-99440600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr8:99438400-99440600	Bivalent Enhancer	Lung	lung
10	chr8:99438600-99440000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:99438600-99440000	Active TSS	NHDF-Ad	bronchial
12	chr8:99438600-99440200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:99438600-99440200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:99438600-99440200	Bivalent/Poised TSS	A549	lung
15	chr8:99438600-99440200	Bivalent/Poised TSS	Osteobl	bone
16	chr8:99438600-99440400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr8:99438600-99440600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:99438600-99440800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr8:99438800-99440000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr8:99438800-99440000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:99438800-99440200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:99438800-99440400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:99438800-99440400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:99438800-99440400	Active TSS	Brain Anterior Caudate	brain
25	chr8:99439000-99440000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:99439000-99440000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr8:99439000-99440400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:99439200-99440400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:99439400-99440000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:99439400-99440400	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr8:99439400-99440400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:99439600-99440000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:99439600-99440000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr8:99439600-99440000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr8:99439600-99440000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
36	chr8:99439600-99440000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr8:99439600-99440200	Bivalent Enhancer	Esophagus	oesophagus
38	chr8:99439600-99440200	Bivalent Enhancer	Placenta	Placenta
39	chr8:99439600-99440200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr8:99439600-99440400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:99439600-99440400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:99439600-99440400	Enhancers	Pancreas	Pancrea
43	chr8:99439600-99440600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr8:99439600-99442200	Weak transcription	Right Atrium	heart
45	chr8:99439800-99440000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:99439800-99440000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:99439800-99440000	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:99439800-99440000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:99439800-99440000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr8:99439800-99440000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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