Variant report

Variant	rs10500522
Chromosome Location	chr16:65261087-65261088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10500523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11642987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11645268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11649565	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12919879	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12920405	0.83[EUR][1000 genomes]
rs12921561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12935443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17435889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17436657	1.00[AFR][1000 genomes]
rs34011307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34107350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34426792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35498940	0.88[EUR][1000 genomes]
rs35514197	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35589456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62042992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62042993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv431509	chr16:65211408-65302840	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv525526	chr16:65257891-65308021	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv906776	chr16:65257891-65315175	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10500522	CES2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65254200-65263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:65257600-65265200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:65258000-65261800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:65258400-65261200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:65258600-65261400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:65259600-65261200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr16:65259600-65261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:65260200-65261200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:65260200-65261200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr16:65260800-65261600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr16:65260800-65262200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:65260800-65262800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr16:65261000-65261400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:65261000-65261400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:65261000-65263000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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

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