Variant report

Variant	rs57446042
Chromosome Location	chr1:171893934-171893935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10913680	1.00[EUR][1000 genomes]
rs12058617	1.00[EUR][1000 genomes]
rs12090298	1.00[EUR][1000 genomes]
rs16843624	1.00[EUR][1000 genomes]
rs41476749	1.00[EUR][1000 genomes]
rs57282067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59123048	1.00[EUR][1000 genomes]
rs59949348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703372	1.00[EUR][1000 genomes]
rs73039305	1.00[EUR][1000 genomes]
rs73039324	1.00[EUR][1000 genomes]
rs73039369	1.00[EUR][1000 genomes]
rs74126539	1.00[AMR][1000 genomes]
rs74126542	1.00[EUR][1000 genomes]
rs74126543	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74126545	1.00[EUR][1000 genomes]
rs9970108	1.00[EUR][1000 genomes]
rs9970212	1.00[EUR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:171879800-171908000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171884200-171903400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:171886800-171902800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:171889800-171895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:171889800-171897600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:171889800-171901800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:171889800-171902600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:171893000-171894400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:171893600-171894000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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