Variant report

Variant	rs4869674
Chromosome Location	chr5:35811829-35811830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10053847	0.84[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]
rs10941265	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11567754	0.89[JPT][hapmap]
rs11567761	1.00[JPT][hapmap]
rs13167136	0.89[JPT][hapmap]
rs1389834	0.84[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]
rs1389835	0.89[JPT][hapmap]
rs3822731	0.89[JPT][hapmap]
rs4869492	0.89[JPT][hapmap]
rs6869232	0.94[ASN][1000 genomes]
rs6891095	0.89[JPT][hapmap]
rs6892686	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73090230	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718489	0.86[ASN][1000 genomes]
rs7726182	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9292618	0.84[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4869674	C5orf23	cis	parietal	SCAN
rs4869674	BRIX1	cis	cerebellum	SCAN
rs4869674	OSMR	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35803800-35813800	Weak transcription	Left Ventricle	heart
2	chr5:35806600-35816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:35808800-35814600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:35808800-35817200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:35808800-35822400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:35809200-35814400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:35809200-35815600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:35809400-35813800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:35809800-35812600	Enhancers	Thymus	Thymus
10	chr5:35809800-35812600	Enhancers	Dnd41	blood
11	chr5:35810400-35812400	Enhancers	Fetal Thymus	thymus
12	chr5:35810600-35812400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:35810600-35812400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:35811000-35814600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:35811000-35815400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:35811200-35815400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:35811200-35815600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:35811200-35817400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:35811600-35816800	Enhancers	Primary T cells from cord blood	blood
20	chr5:35811800-35814200	Enhancers	Primary T helper cells PMA-I stimulated	--

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