Variant report

Variant	rs10892422
Chromosome Location	chr11:119498748-119498749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10892421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1355191	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4499013	0.86[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs4514433	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4514434	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7928238	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs871800	0.82[CHB][hapmap]
rs884395	0.82[CHB][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898419	chr11:119488646-119518006	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10892422	VPS11	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119493800-119501200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr11:119494400-119502800	Weak transcription	Spleen	Spleen
3	chr11:119495000-119499400	Bivalent Enhancer	HepG2	liver
4	chr11:119496000-119499000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr11:119496600-119498800	Weak transcription	Right Atrium	heart
6	chr11:119497400-119502200	Enhancers	Fetal Muscle Leg	muscle
7	chr11:119497600-119500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:119498000-119500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:119498000-119500400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:119498000-119501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:119498200-119500200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:119498200-119500200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:119498200-119503800	Weak transcription	HSMMtube	muscle
14	chr11:119498200-119510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:119498400-119500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:119498600-119499600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:119498600-119500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:119498600-119500000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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