Variant report

Variant	rs10496711
Chromosome Location	chr2:134516742-134516743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1110671	0.85[ASN][1000 genomes]
rs1110672	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11903316	0.84[ASN][1000 genomes]
rs12471670	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12475347	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12989443	0.82[ASN][1000 genomes]
rs12998715	0.85[ASN][1000 genomes]
rs1348839	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1374396	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446740	0.82[ASN][1000 genomes]
rs1446741	0.82[ASN][1000 genomes]
rs1446742	0.81[ASN][1000 genomes]
rs1900350	0.84[ASN][1000 genomes]
rs1900351	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2100083	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3905278	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4129551	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41455444	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4386376	0.86[ASN][1000 genomes]
rs4425130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4494809	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4533517	0.83[ASN][1000 genomes]
rs4589812	0.86[ASN][1000 genomes]
rs4605420	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56194837	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56724378	0.81[EUR][1000 genomes]
rs57021484	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57801195	0.83[EUR][1000 genomes]
rs6414016	0.86[ASN][1000 genomes]
rs6430450	0.85[ASN][1000 genomes]
rs6430451	0.81[ASN][1000 genomes]
rs6716625	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6731434	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6760899	0.81[ASN][1000 genomes]
rs72843283	0.83[EUR][1000 genomes]
rs72843284	0.83[EUR][1000 genomes]
rs7576406	0.81[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10496711	SP9	trans	parietal	SCAN
rs10496711	FAM123C	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134514200-134517400	Weak transcription	NHLF	lung
2	chr2:134514200-134518000	Weak transcription	Osteobl	bone
3	chr2:134514200-134519600	Weak transcription	Fetal Heart	heart
4	chr2:134514200-134523200	Weak transcription	Ovary	ovary
5	chr2:134514400-134517800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:134514400-134517800	Weak transcription	Fetal Lung	lung
7	chr2:134514600-134517600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134514800-134517600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:134515200-134516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:134515800-134517800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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