Variant report

Variant	rs11253863
Chromosome Location	chr10:16284825-16284826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10508504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10904697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10904699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11253865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11253869	0.82[AFR][1000 genomes]
rs11591252	0.97[EUR][1000 genomes]
rs12247591	0.93[EUR][1000 genomes]
rs1538760	0.85[ASN][1000 genomes]
rs1813934	0.85[ASN][1000 genomes]
rs7082336	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7094549	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7095122	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74124947	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74124948	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74124951	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74127023	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7902512	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7910600	0.85[EUR][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	nsv530146	chr10:15722937-16522747	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv870420	chr10:16225427-16541252	Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv894904	chr10:16233175-16477106	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831796	chr10:16240111-16393044	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11253863	CUBN	cis	parietal	SCAN
rs11253863	C10orf111	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16282600-16285400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:16284200-16286600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr10:16284400-16285000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:16284400-16285000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr10:16284400-16286200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:16284600-16285000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:16284600-16285000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:16284600-16285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:16284800-16285000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:16284800-16285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:16284800-16285600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:16284800-16285600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:16284800-16285600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:16284800-16285800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:16284800-16286000	Enhancers	H9 Cell Line	embryonic stem cell

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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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