Variant report

Variant	rs9991180
Chromosome Location	chr4:28480049-28480050
allele	A/G
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:19)

rs_ID	r²[population]
rs10000505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10014965	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015124	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28379882	0.89[AFR][1000 genomes]
rs28433500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28448693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28626326	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28641602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28818832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28853941	1.00[AMR][1000 genomes]
rs28896023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3897959	1.00[AMR][1000 genomes]
rs7681477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9990538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:28476600-28484400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28479600-28480200	Enhancers	Fetal Brain Female	brain
3	chr4:28479800-28480200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:28479800-28481000	Enhancers	Fetal Brain Male	brain
5	chr4:28480000-28480200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:28480000-28480400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:28480000-28480400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:28480000-28480400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:28480000-28481000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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