Variant report

Variant	rs73420364
Chromosome Location	chr12:124251160-124251161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6488904	0.97[ASN][1000 genomes]
rs67399282	0.97[ASN][1000 genomes]
rs7135874	0.97[ASN][1000 genomes]
rs7301897	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316847	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124239800-124252000	Weak transcription	K562	blood
2	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
3	chr12:124247200-124251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:124247600-124251800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:124247600-124252000	Weak transcription	Fetal Thymus	thymus
6	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:124248000-124252200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:124248000-124252200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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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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