Variant report

Variant	rs1790312
Chromosome Location	chr11:71107367-71107368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1620013	0.82[EUR][1000 genomes]
rs1627788	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1660871	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1660875	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1660882	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1660886	0.82[EUR][1000 genomes]
rs1660887	0.82[EUR][1000 genomes]
rs1660889	0.82[EUR][1000 genomes]
rs1660890	0.82[EUR][1000 genomes]
rs1660892	0.82[EUR][1000 genomes]
rs1790311	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790315	0.85[EUR][1000 genomes]
rs1790317	0.85[EUR][1000 genomes]
rs1790322	0.82[EUR][1000 genomes]
rs1790323	0.84[EUR][1000 genomes]
rs1792214	0.85[CEU][hapmap]
rs1792254	0.84[EUR][1000 genomes]
rs1792256	0.82[EUR][1000 genomes]
rs1792259	0.82[EUR][1000 genomes]
rs1792262	0.82[EUR][1000 genomes]
rs1792299	0.82[EUR][1000 genomes]
rs1792331	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1792332	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792334	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792336	0.86[EUR][1000 genomes]
rs7112574	0.86[EUR][1000 genomes]
rs935081	0.86[CEU][hapmap]
rs999124	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832202	chr11:71088949-71131368	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking 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	14 gene(s)	inside rSNPs	diseases
5	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1790312	RNF169	cis	parietal	SCAN
rs1790312	ADRBK1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71102800-71114000	Weak transcription	Pancreas	Pancrea
2	chr11:71105000-71111400	Weak transcription	Spleen	Spleen
3	chr11:71107200-71107800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr11:71107200-71107800	Enhancers	Dnd41	blood
5	chr11:71107200-71108600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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