Variant report

Variant	rs10808515
Chromosome Location	chr8:121848549-121848550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094256	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808514	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13273184	0.91[EUR][1000 genomes]
rs13273851	0.92[EUR][1000 genomes]
rs13282943	0.81[TSI][hapmap]
rs28521810	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34625860	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469954	0.83[EUR][1000 genomes]
rs7007426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008485	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016201	0.82[EUR][1000 genomes]
rs7016893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017040	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72682582	0.92[EUR][1000 genomes]
rs9643149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9969585	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9969664	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2762767	chr8:121843465-121849583	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891423	chr8:121847643-121994660	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10808515	LOC100131726	cis	cerebellum	SCAN
rs10808515	SLC30A8	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121838400-121869800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:121846800-121849400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:121846800-121850200	Enhancers	Primary T cells from cord blood	blood
4	chr8:121846800-121850800	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:121847200-121849400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:121847200-121850000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:121847400-121848800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:121847600-121848600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:121847600-121848800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:121847600-121851200	Enhancers	HepG2	liver
11	chr8:121848000-121849400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:121848000-121849600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:121848000-121849800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:121848200-121848600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:121848200-121848600	Enhancers	Psoas Muscle	Psoas
16	chr8:121848200-121848800	Enhancers	Liver	Liver
17	chr8:121848200-121849400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:121848200-121849400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:121848400-121848800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:121848400-121849200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:121848400-121849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:121848400-121852400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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