Variant report

Variant	rs1031188
Chromosome Location	chr1:72948540-72948541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17092792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17092800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs782205	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947113	chr1:72810737-72948614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871873	chr1:72861847-72975877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv870463	chr1:72861847-72995398	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv871758	chr1:72861847-72995398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv830215	chr1:72869049-73029787	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72946800-72948800	Enhancers	Fetal Thymus	thymus
2	chr1:72947000-72950000	Enhancers	Thymus	Thymus
3	chr1:72947200-72950000	Enhancers	Dnd41	blood
4	chr1:72947600-72948800	Enhancers	Fetal Lung	lung
5	chr1:72948200-72948600	Flanking Active TSS	HepG2	liver
6	chr1:72948400-72948800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:72948400-72949800	Enhancers	Primary T cells from cord blood	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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