Variant report

Variant	rs2082807
Chromosome Location	chr11:9672763-9672764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743114	0.83[ASN][1000 genomes]
rs10770043	0.86[MEX][hapmap]
rs10770052	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770053	0.95[ASN][1000 genomes]
rs10840276	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840278	0.85[EUR][1000 genomes]
rs10840279	0.95[ASN][1000 genomes]
rs10840281	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042452	0.84[ASN][1000 genomes]
rs11042454	0.90[ASN][1000 genomes]
rs11042458	0.86[EUR][1000 genomes]
rs1865558	0.82[ASN][1000 genomes]
rs4910483	0.81[ASN][1000 genomes]
rs7120033	0.82[CEU][hapmap];0.80[TSI][hapmap]
rs715333	0.83[ASN][1000 genomes]
rs737617	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7950021	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv972945	chr11:9660423-9684250	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2082807	NRIP3	cis	parietal	SCAN
rs2082807	OLFML1	cis	cerebellum	SCAN
rs2082807	NLRP14	cis	parietal	SCAN
rs2082807	CYB5R2	cis	parietal	SCAN
rs2082807	SWAP70	cis	lymphoblastoid	seeQTL
rs2082807	SWAP70	Cis_1M	lymphoblastoid	RTeQTL
rs2082807	ASCL3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9668000-9673200	Weak transcription	Small Intestine	intestine
2	chr11:9668000-9673200	Weak transcription	Spleen	Spleen
3	chr11:9670400-9673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:9670600-9672800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:9671200-9673400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9671200-9673400	Weak transcription	HSMMtube	muscle
7	chr11:9672600-9674400	Enhancers	Fetal Intestine Small	intestine

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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

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