Variant report

Variant	rs548532874
Chromosome Location	chr1:227614879-227614880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv873243	chr1:227581017-227617519	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3362823	chr1:227614079-227616077	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227610600-227615200	Weak transcription	K562	blood
2	chr1:227612600-227616200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:227612800-227615200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:227612800-227615200	Weak transcription	HUVEC	blood vessel
5	chr1:227612800-227615400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:227612800-227616000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:227612800-227616400	Weak transcription	Left Ventricle	heart
8	chr1:227613000-227615400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:227613000-227615600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:227613000-227616000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:227613000-227616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:227614000-227615200	Weak transcription	A549	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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