Variant report

Variant	rs17759031
Chromosome Location	chr8:2131525-2131526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10110631	0.80[ASN][1000 genomes]
rs17064840	0.80[ASN][1000 genomes]
rs17064844	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17064857	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17064865	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17685326	1.00[AFR][1000 genomes]
rs17752388	1.00[AFR][1000 genomes]
rs17752636	1.00[AFR][1000 genomes]
rs17832129	0.82[EUR][1000 genomes]
rs4876214	0.80[ASN][1000 genomes]
rs55634999	1.00[AFR][1000 genomes]
rs55837260	1.00[AFR][1000 genomes]
rs56095029	1.00[AFR][1000 genomes]
rs56124008	1.00[AFR][1000 genomes]
rs62478455	1.00[AFR][1000 genomes]
rs62478458	1.00[AFR][1000 genomes]
rs62479964	1.00[AFR][1000 genomes]
rs62479967	1.00[AFR][1000 genomes]
rs62480005	1.00[AFR][1000 genomes]
rs62501380	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17759031	MYOM2	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2128200-2135400	Enhancers	Fetal Brain Male	brain
2	chr8:2129600-2131800	Enhancers	Right Ventricle	heart
3	chr8:2129600-2132000	Weak transcription	Fetal Brain Female	brain
4	chr8:2129600-2133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2129600-2133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:2130200-2132400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr8:2130200-2132800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:2130400-2131800	Enhancers	Fetal Thymus	thymus
9	chr8:2130400-2132000	Enhancers	Esophagus	oesophagus
10	chr8:2130400-2132000	Enhancers	Fetal Muscle Leg	muscle
11	chr8:2130400-2132400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:2130600-2131800	Enhancers	Psoas Muscle	Psoas
13	chr8:2130600-2132000	Enhancers	Right Atrium	heart
14	chr8:2130800-2131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:2130800-2131600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr8:2130800-2131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:2130800-2132000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:2130800-2132000	Enhancers	Gastric	stomach
19	chr8:2131000-2131600	Weak transcription	Spleen	Spleen
20	chr8:2131200-2131600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:2131400-2131600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:2131400-2131600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr8:2131400-2131800	Enhancers	Brain Anterior Caudate	brain
24	chr8:2131400-2131800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr8:2131400-2135400	Weak transcription	Pancreas	Pancrea

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