Variant report

Variant	rs12450474
Chromosome Location	chr17:33841737-33841738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11654795	0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2165877	0.88[ASN][1000 genomes]
rs4795078	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs4796091	0.84[EUR][1000 genomes]
rs4796093	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6505479	0.89[ASN][1000 genomes]
rs7219413	0.81[EUR][1000 genomes]
rs7221374	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7223043	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs8066424	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs8068906	0.89[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs8069288	0.82[EUR][1000 genomes]
rs8070473	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv519981	chr17:33841737-33864479	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12450474	FNDC8	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33835400-33849600	Weak transcription	Spleen	Spleen
2	chr17:33836400-33843800	Strong transcription	Dnd41	blood
3	chr17:33837800-33846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:33839000-33841800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:33839800-33841800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:33839800-33842200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:33840000-33842200	Strong transcription	GM12878-XiMat	blood
8	chr17:33840000-33843400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:33840400-33841800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:33840400-33841800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:33840400-33842200	Strong transcription	Primary T cells from cord blood	blood
12	chr17:33840800-33841800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:33841000-33841800	Enhancers	Fetal Lung	lung
14	chr17:33841200-33842000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:33841200-33842000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr17:33841200-33842000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:33841200-33843400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr17:33841600-33842000	Enhancers	Duodenum Mucosa	Duodenum
19	chr17:33841600-33842400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:33841600-33842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:33841600-33843400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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