Variant report

Variant	rs2413108
Chromosome Location	chr22:32740441-32740442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr22:32738635-32740464	GM12878	blood:	n/a	chr22:32740196-32740209

Variant related genes	Relation type
ENSG00000234626	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs135414	0.97[ASN][1000 genomes]
rs1883223	0.98[ASN][1000 genomes]
rs2014137	0.83[ASN][1000 genomes]
rs2076034	0.87[CHB][hapmap]
rs2076036	0.82[CHB][hapmap]
rs2413109	0.86[CEU][hapmap]
rs4343557	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs56027806	0.92[ASN][1000 genomes]
rs5749406	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749407	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs5749412	0.83[CHB][hapmap]
rs5753996	0.82[ASN][1000 genomes]
rs5753998	0.91[ASN][1000 genomes]
rs5753999	0.81[ASN][1000 genomes]
rs5754020	0.86[CHB][hapmap]
rs5754027	0.80[CHB][hapmap]
rs5754030	0.83[CHB][hapmap]
rs5754036	0.83[CHB][hapmap]
rs5754037	0.82[CHB][hapmap]
rs5754040	0.83[CHB][hapmap]
rs5754043	0.91[CHB][hapmap]
rs5754044	0.83[CHB][hapmap]
rs5754049	0.90[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap]
rs58996666	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5994542	0.84[ASN][1000 genomes]
rs5994547	0.99[ASN][1000 genomes]
rs5998420	0.87[ASN][1000 genomes]
rs5998428	0.97[ASN][1000 genomes]
rs5998440	0.87[CHB][hapmap]
rs5998451	0.83[CHB][hapmap]
rs5998456	0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs5998463	0.82[CHB][hapmap]
rs7291000	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs738267	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv964624	chr22:32740318-32751906	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2413108	CCDC157	cis	parietal	SCAN
rs2413108	OSBP2	cis	cerebellum	SCAN
rs2413108	SEC14L4	cis	parietal	SCAN
rs2413108	C22orf28	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32736400-32741800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:32736800-32744200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32738000-32741800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32739600-32742400	Enhancers	HUVEC	blood vessel
5	chr22:32740200-32752000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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