Variant report

Variant	rs10992984
Chromosome Location	chr9:96685120-96685121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10992975	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10992976	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10992982	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992985	0.85[CHD][hapmap];0.84[MEX][hapmap]
rs10993002	1.00[ASW][hapmap]
rs10993045	1.00[ASW][hapmap]
rs12380877	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72755515	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72755516	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046904	chr9:96647940-96689327	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1035418	chr9:96647940-96711409	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1042043	chr9:96657324-96689327	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10992984	SECISBP2	cis	parietal	SCAN
rs10992984	NOL8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96677000-96685200	Weak transcription	Spleen	Spleen
2	chr9:96680200-96687200	Weak transcription	Gastric	stomach
3	chr9:96681400-96690600	Weak transcription	Right Atrium	heart
4	chr9:96684800-96685200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:96684800-96685600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:96685000-96685200	Enhancers	iPS-18 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links