Variant report

Variant	rs74130477
Chromosome Location	chr1:192765377-192765378
allele	A/T
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]
rs56031935	0.94[AFR][1000 genomes]
rs57189481	0.94[AFR][1000 genomes]
rs6680350	0.88[AFR][1000 genomes]
rs6683145	0.98[AFR][1000 genomes]
rs6702235	0.98[AFR][1000 genomes]
rs6702236	0.98[AFR][1000 genomes]
rs73062264	0.86[AFR][1000 genomes]
rs73062267	0.86[AFR][1000 genomes]
rs73062271	0.98[AFR][1000 genomes]
rs73062273	0.98[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv146543	chr1:192765378-192765378	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192762000-192770000	Weak transcription	Fetal Lung	lung
2	chr1:192762600-192765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:192762600-192766200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:192762800-192765400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:192763000-192769000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:192763600-192765600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:192763800-192765600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:192764400-192765800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:192764400-192766400	Weak transcription	Left Ventricle	heart
10	chr1:192764600-192765400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:192764800-192765400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:192765200-192766200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:192765200-192766200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:192765200-192766600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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