Variant report

Variant	rs6883343
Chromosome Location	chr5:89285785-89285786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428551	1.00[EUR][1000 genomes]
rs11949880	1.00[EUR][1000 genomes]
rs12109697	1.00[EUR][1000 genomes]
rs2920510	1.00[EUR][1000 genomes]
rs2950045	1.00[EUR][1000 genomes]
rs6452856	1.00[EUR][1000 genomes]
rs6871185	1.00[EUR][1000 genomes]
rs6874712	0.87[AMR][1000 genomes]
rs73186550	1.00[EUR][1000 genomes]
rs73770752	1.00[EUR][1000 genomes]
rs73770758	1.00[EUR][1000 genomes]
rs73770765	1.00[EUR][1000 genomes]
rs7709100	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89283600-89287000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:89283800-89287000	Enhancers	NHDF-Ad	bronchial
3	chr5:89284000-89287000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:89284400-89286000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:89284400-89286000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:89284400-89286000	Enhancers	Osteobl	bone
7	chr5:89284400-89286200	Enhancers	Adipose Nuclei	Adipose
8	chr5:89284400-89286400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:89284800-89286800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:89285000-89285800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:89285000-89286000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:89285000-89286000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:89285000-89286200	Weak transcription	Right Atrium	heart
14	chr5:89285000-89286400	Enhancers	Brain Anterior Caudate	brain
15	chr5:89285000-89298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:89285200-89286000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:89285200-89286200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:89285200-89286200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:89285200-89288200	Weak transcription	Psoas Muscle	Psoas
20	chr5:89285400-89285800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:89285400-89286000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:89285400-89286200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:89285600-89285800	Enhancers	Aorta	Aorta
24	chr5:89285600-89285800	Enhancers	NHLF	lung
25	chr5:89285600-89286000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:89285600-89286200	Enhancers	Cortex derived primary cultured neurospheres	brain

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