Variant report

Variant	rs4611242
Chromosome Location	chr12:60234637-60234638
allele	A/C
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]
rs11173114	1.00[AMR][1000 genomes]
rs11173184	1.00[AMR][1000 genomes]
rs12300502	1.00[AMR][1000 genomes]
rs12311542	1.00[AMR][1000 genomes]
rs12313481	1.00[AMR][1000 genomes]
rs12314221	1.00[AMR][1000 genomes]
rs12322234	1.00[AMR][1000 genomes]
rs61000228	1.00[AMR][1000 genomes]
rs73352632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74098403	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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60225400-60240000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:60232400-60235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:60232600-60235000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:60234400-60238600	Weak transcription	HUVEC	blood vessel

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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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