Variant report

Variant	rs11810918
Chromosome Location	chr1:69968732-69968733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11799666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56880499	0.83[AFR][1000 genomes]
rs57020678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59871929	0.83[AFR][1000 genomes]
rs60462146	0.85[AFR][1000 genomes];1.00[AMR][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv546451	chr1:69894849-69975660	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69960800-69970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:69964400-69969200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:69968200-69971000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:69968600-69969400	Flanking Active TSS	K562	blood
5	chr1:69968600-69969600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:69968600-69971600	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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