Variant report

Variant	rs11694094
Chromosome Location	chr2:48616752-48616753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10182093	0.89[EUR][1000 genomes]
rs10191938	0.89[EUR][1000 genomes]
rs10195717	0.90[EUR][1000 genomes]
rs10197359	0.90[EUR][1000 genomes]
rs11674217	0.83[EUR][1000 genomes]
rs11674317	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11674683	1.00[AFR][1000 genomes]
rs11675947	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11676078	0.83[EUR][1000 genomes]
rs11676925	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11677205	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11677350	1.00[AFR][1000 genomes]
rs11678825	0.84[EUR][1000 genomes]
rs11678934	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11679685	0.91[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11683202	0.83[EUR][1000 genomes]
rs11687276	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11687401	1.00[AFR][1000 genomes]
rs11687461	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688465	1.00[AFR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11692537	0.83[EUR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13398456	0.90[EUR][1000 genomes]
rs17325698	1.00[AFR][1000 genomes]
rs17397094	1.00[AFR][1000 genomes]
rs17397449	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28505584	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72889641	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7573281	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7584796	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs952468	1.00[AFR][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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694094	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48608400-48618000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:48614800-48618400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:48615600-48616800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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