Variant report

Variant	rs13266634
Chromosome Location	chr8:118184783-118184784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11558471	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774700	0.81[ASN][1000 genomes]
rs35859536	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802177	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4300038	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7825054	1.00[YRI][hapmap]
rs9650069	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1031711	chr8:118134669-118322562	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:11)

Disease	PMID	Source
Type 2 diabetes	17460697	GWAS catalog
Type 2 diabetes	17463248	GWAS catalog
Type 2 diabetes	23945395	GWAS catalog
Type 2 diabetes and other traits	19734900	GWAS catalog
Glycated hemoglobin levels	19096518	GWAS catalog
Type 2 diabetes	19401414	GWAS catalog
Type 2 diabetes	17293876	GWAS catalog
Type 2 diabetes	17463249	GWAS catalog
Type 2 diabetes	17463246	GWAS catalog
Type 2 diabetes	19056611	GWAS catalog
Glycated hemoglobin levels	24647736	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13266634	SAMD12	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118178800-118185600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:118182600-118185400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:118182800-118184800	Enhancers	Brain Germinal Matrix	brain
4	chr8:118183000-118185000	Enhancers	Fetal Intestine Small	intestine
5	chr8:118183000-118186000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118183200-118185000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:118183200-118185200	Enhancers	Fetal Intestine Large	intestine
8	chr8:118183400-118184800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:118183400-118185000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:118183400-118185000	Enhancers	Fetal Brain Female	brain
11	chr8:118183400-118185200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:118183400-118185200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:118183600-118184800	Enhancers	Fetal Muscle Leg	muscle
14	chr8:118183600-118185000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:118183800-118185000	Enhancers	Fetal Brain Male	brain
16	chr8:118184000-118184800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:118184000-118185000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:118184000-118185000	Enhancers	Right Atrium	heart
19	chr8:118184000-118185200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:118184000-118185400	Enhancers	Fetal Heart	heart
21	chr8:118184200-118184800	Enhancers	Aorta	Aorta
22	chr8:118184200-118184800	Enhancers	Fetal Lung	lung
23	chr8:118184200-118184800	Enhancers	Stomach Mucosa	stomach
24	chr8:118184200-118185000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:118184200-118185000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:118184400-118184800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:118184400-118184800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:118184600-118184800	Bivalent Enhancer	Placenta	Placenta
29	chr8:118184600-118184800	Bivalent Enhancer	HSMMtube	muscle
30	chr8:118184600-118185000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:118184600-118185000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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