Variant report

Variant	rs56844743
Chromosome Location	chr8:118947997-118947998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17453427	0.83[AFR][1000 genomes]
rs57399568	0.83[AFR][1000 genomes]
rs57888816	0.81[AFR][1000 genomes]
rs60553718	1.00[AFR][1000 genomes]
rs61016956	0.83[AFR][1000 genomes]
rs73323905	1.00[AFR][1000 genomes]
rs73323906	1.00[AFR][1000 genomes]
rs73323916	0.83[AFR][1000 genomes]
rs73323935	0.83[AFR][1000 genomes]
rs73323942	0.83[AFR][1000 genomes]
rs73323945	0.83[AFR][1000 genomes]
rs73323948	0.83[AFR][1000 genomes]
rs73323954	0.83[AFR][1000 genomes]

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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
2	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
3	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:118940600-118949400	Weak transcription	HSMM	muscle
5	chr8:118940800-118949600	Weak transcription	HepG2	liver
6	chr8:118941200-118949200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:118943800-118950800	Enhancers	Liver	Liver
8	chr8:118944200-118948200	Weak transcription	Small Intestine	intestine
9	chr8:118944800-118949600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:118945600-118948000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:118945800-118948400	Enhancers	Right Atrium	heart
12	chr8:118945800-118948800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:118946000-118948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:118946000-118948600	Enhancers	Fetal Lung	lung
15	chr8:118946000-118950600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:118946200-118950400	Enhancers	Fetal Heart	heart
17	chr8:118946200-118950600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:118946400-118953000	Enhancers	NHLF	lung
19	chr8:118946600-118948600	Enhancers	Osteobl	bone
20	chr8:118946600-118950600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:118946800-118949600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:118946800-118949600	Weak transcription	Left Ventricle	heart
23	chr8:118946800-118949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:118946800-118950000	Weak transcription	Colonic Mucosa	Colon
25	chr8:118946800-118950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:118946800-118952400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
28	chr8:118947000-118949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:118947000-118949200	Weak transcription	Brain Germinal Matrix	brain
30	chr8:118947000-118949200	Weak transcription	HSMMtube	muscle
31	chr8:118947000-118949400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:118947000-118949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:118947000-118949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:118947000-118949600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:118947000-118949600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:118947000-118951200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:118947000-118952200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:118947000-118956000	Weak transcription	Gastric	stomach
39	chr8:118947200-118948200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:118947200-118948200	Weak transcription	Aorta	Aorta
41	chr8:118947200-118948400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:118947200-118948800	Enhancers	NHEK	skin
43	chr8:118947200-118949200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:118947200-118949400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:118947200-118949400	Weak transcription	Fetal Brain Male	brain
46	chr8:118947200-118949400	Weak transcription	Fetal Brain Female	brain
47	chr8:118947200-118949600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:118947200-118949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:118947200-118949600	Weak transcription	Placenta	Placenta
50	chr8:118947200-118949800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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