Variant report

Variant	rs17752935
Chromosome Location	chr8:2142374-2142375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2141998..2144504-chr8:2151778..2153917,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-2	chr8:2142013-2142690	ENSG00000254304.1

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11990262	1.00[EUR][1000 genomes]
rs11990352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17064822	0.90[AMR][1000 genomes]
rs17685422	0.90[AMR][1000 genomes]
rs17685428	0.90[AMR][1000 genomes]
rs17752465	0.90[AMR][1000 genomes]
rs17752511	0.80[AMR][1000 genomes]
rs17752654	0.90[AMR][1000 genomes]
rs57660522	1.00[EUR][1000 genomes]
rs58126128	1.00[EUR][1000 genomes]
rs60549453	1.00[EUR][1000 genomes]
rs61687090	1.00[EUR][1000 genomes]
rs62501422	0.80[AMR][1000 genomes]
rs62501425	0.90[AMR][1000 genomes]
rs62501426	0.90[AMR][1000 genomes]
rs62501429	0.90[AMR][1000 genomes]
rs62501430	0.90[AMR][1000 genomes]
rs62501431	0.90[AMR][1000 genomes]
rs6985236	0.90[AMR][1000 genomes]
rs73559820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559825	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2138600-2146800	Weak transcription	Fetal Brain Male	brain
2	chr8:2139800-2147800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr8:2140400-2144600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:2141200-2143600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:2141200-2147800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:2141400-2142400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:2141400-2142400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:2141400-2142400	Bivalent Enhancer	Left Ventricle	heart
9	chr8:2141400-2142600	Flanking Active TSS	Fetal Thymus	thymus
10	chr8:2141400-2143000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:2141400-2143200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:2141400-2143600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:2141400-2144000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:2141400-2144000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:2141400-2144600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:2141400-2144800	Enhancers	Primary T cells from cord blood	blood
17	chr8:2141600-2142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:2141600-2142400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:2141600-2143800	Flanking Active TSS	Dnd41	blood
20	chr8:2141600-2144800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:2141800-2142400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:2141800-2144000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:2141800-2144200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:2141800-2145800	Weak transcription	Thymus	Thymus
25	chr8:2141800-2147000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:2142000-2147000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:2142200-2142400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:2142200-2143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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