Variant report

Variant	rs400319
Chromosome Location	chr19:44409084-44409085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs239941	1.00[AFR][1000 genomes]
rs239945	1.00[AFR][1000 genomes]
rs386662	0.83[AFR][1000 genomes]
rs396063	1.00[AFR][1000 genomes]
rs408926	0.91[AFR][1000 genomes]
rs420242	0.91[AFR][1000 genomes]
rs431247	0.91[AFR][1000 genomes]
rs432559	1.00[AFR][1000 genomes]
rs443524	0.91[AFR][1000 genomes]
rs444350	1.00[AFR][1000 genomes]
rs7254658	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv912108	chr19:44358761-44435167	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44404000-44434800	ZNF genes & repeats	Liver	Liver
2	chr19:44406800-44413200	Weak transcription	Right Ventricle	heart
3	chr19:44406800-44416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:44406800-44417000	Weak transcription	HSMM	muscle
5	chr19:44406800-44418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:44406800-44427400	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:44407000-44417000	Weak transcription	Fetal Heart	heart
8	chr19:44407400-44427600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44408400-44409600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:44408600-44409600	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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