Variant report

Variant	rs10770049
Chromosome Location	chr11:9665455-9665456
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10743113	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10770050	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10770051	0.95[ASN][1000 genomes]
rs10840277	0.99[ASN][1000 genomes]
rs1865557	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2099465	1.00[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4243949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4243950	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7104787	0.98[EUR][1000 genomes]
rs7111053	0.98[EUR][1000 genomes]
rs7112156	0.86[ASN][1000 genomes]
rs7113314	0.98[EUR][1000 genomes]
rs7123629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10770049	SWAP70	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9660600-9670400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:9661200-9665800	Weak transcription	Right Atrium	heart
3	chr11:9661200-9666200	Weak transcription	Lung	lung
4	chr11:9661600-9667600	Weak transcription	Spleen	Spleen
5	chr11:9661800-9667200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:9663600-9666200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:9664200-9665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:9664200-9665800	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:9664200-9666000	Enhancers	Primary B cells from cord blood	blood
10	chr11:9664200-9666600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:9664400-9666400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:9664400-9666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:9664400-9666400	Enhancers	GM12878-XiMat	blood
14	chr11:9664400-9667800	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:9664600-9666400	Enhancers	A549	lung
16	chr11:9665200-9666400	Enhancers	Fetal Intestine Large	intestine
17	chr11:9665200-9668400	Enhancers	Fetal Intestine Small	intestine
18	chr11:9665400-9666400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:9665400-9666400	Enhancers	Monocytes-CD14+_RO01746	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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