Variant report

Variant	rs10840276
Chromosome Location	chr11:9663116-9663117
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10743114	0.89[ASN][1000 genomes]
rs10770052	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10770053	0.90[ASN][1000 genomes]
rs10840278	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840279	0.91[ASN][1000 genomes]
rs10840281	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042452	0.90[ASN][1000 genomes]
rs11042454	0.96[ASN][1000 genomes]
rs11042458	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1865558	0.88[ASN][1000 genomes]
rs2082807	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910483	0.87[ASN][1000 genomes]
rs7120033	0.82[CEU][hapmap]
rs715333	0.89[ASN][1000 genomes]
rs737617	0.93[ASN][1000 genomes]
rs7950021	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10840276	SWAP70	cis	Lymphoblastoid	GTEx
rs10840276	SWAP70	Cis_1M	lymphoblastoid	RTeQTL
rs10840276	SWAP70	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9659400-9663200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:9660600-9670400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:9661200-9665800	Weak transcription	Right Atrium	heart
4	chr11:9661200-9666200	Weak transcription	Lung	lung
5	chr11:9661600-9667600	Weak transcription	Spleen	Spleen
6	chr11:9661800-9664200	Weak transcription	Primary B cells from cord blood	blood
7	chr11:9661800-9665200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:9661800-9665200	Weak transcription	Fetal Intestine Small	intestine
9	chr11:9661800-9667200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:9662400-9664200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:9662600-9664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:9662600-9664200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:9662600-9664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:9662800-9664400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:9662800-9664400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:9663000-9664200	Weak transcription	Primary hematopoietic stem cells short term culture	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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