Variant report

Variant	rs9999849
Chromosome Location	chr4:55708606-55708607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28371907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711746	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs721162	1.00[AFR][1000 genomes];1.00[AMR][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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55704600-55712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55705600-55711400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:55706600-55709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:55706800-55709000	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:55706800-55709800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:55707000-55708800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:55707200-55708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:55707400-55708800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:55707800-55709000	Enhancers	Placenta	Placenta
10	chr4:55707800-55709600	Enhancers	Left Ventricle	heart
11	chr4:55708000-55708800	Weak transcription	Fetal Heart	heart
12	chr4:55708200-55708800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:55708200-55708800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:55708400-55709000	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:55708400-55709200	Enhancers	Fetal Stomach	stomach
16	chr4:55708400-55709600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:55708600-55709000	Enhancers	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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