Variant report

Variant	rs431247
Chromosome Location	chr19:44412985-44412986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs239941	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs239945	0.91[AFR][1000 genomes]
rs396063	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs400319	0.91[AFR][1000 genomes]
rs408926	1.00[AFR][1000 genomes]
rs420242	1.00[AFR][1000 genomes]
rs432559	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs443524	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs444350	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7254658	0.91[AFR][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	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
2	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
3	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 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	chr19:44410400-44415000	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr19:44411400-44417200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:44412000-44434800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:44412400-44426000	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:44412600-44414200	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr19:44412800-44414800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:44412800-44415000	ZNF genes & repeats	Fetal Lung	lung

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Input of quick search could be:

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

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