Variant report

Variant	rs551613531
Chromosome Location	chr8:48553806-48553807
allele	C/T
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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3377498	chr8:48553227-48553817	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:48540600-48556600	Weak transcription	Right Ventricle	heart
8	chr8:48540800-48556000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:48541000-48554400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:48541200-48556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:48541600-48556600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:48543600-48556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:48543800-48554200	Weak transcription	Aorta	Aorta
14	chr8:48543800-48556600	Weak transcription	Liver	Liver
15	chr8:48543800-48556600	Weak transcription	Gastric	stomach
16	chr8:48543800-48559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:48544000-48554200	Weak transcription	Fetal Intestine Large	intestine
18	chr8:48545600-48554000	Weak transcription	Fetal Stomach	stomach
19	chr8:48546000-48554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:48546000-48556400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:48546000-48557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:48546200-48554200	Weak transcription	Spleen	Spleen
23	chr8:48546200-48556000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:48546200-48556600	Weak transcription	A549	lung
25	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:48546400-48554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:48546400-48556400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:48546400-48556600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:48546600-48554200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:48546600-48556000	Weak transcription	Esophagus	oesophagus
32	chr8:48546600-48556400	Weak transcription	HepG2	liver
33	chr8:48547000-48556600	Weak transcription	Pancreas	Pancrea
34	chr8:48547400-48554200	Weak transcription	Lung	lung
35	chr8:48547400-48554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:48547400-48554400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:48547400-48556400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:48547400-48556600	Weak transcription	Left Ventricle	heart
39	chr8:48547600-48556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:48549000-48554000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:48549200-48554200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:48549200-48556600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:48549600-48556200	Weak transcription	Dnd41	blood
44	chr8:48551200-48556600	Weak transcription	Right Atrium	heart
45	chr8:48551400-48554000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:48551600-48554200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:48551600-48556600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:48551800-48556400	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:48551800-48556400	Weak transcription	Fetal Heart	heart
50	chr8:48551800-48556600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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