Variant report

Variant	rs9395336
Chromosome Location	chr6:13024606-13024607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11759412	0.88[EUR][1000 genomes]
rs28360598	0.85[EUR][1000 genomes]
rs35241555	0.85[EUR][1000 genomes]
rs35684248	0.88[EUR][1000 genomes]
rs35713382	0.83[EUR][1000 genomes]
rs4129937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131857	0.85[CEU][hapmap]
rs4132045	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236093	0.85[GIH][hapmap]
rs4236098	0.99[EUR][1000 genomes]
rs4331981	0.85[CEU][hapmap];0.82[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs4616991	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4715045	0.84[CHD][hapmap];0.82[GIH][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs4715065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715068	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715069	0.93[ASN][1000 genomes]
rs6906890	0.85[GIH][hapmap]
rs6907651	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912487	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6936052	0.83[EUR][1000 genomes]
rs73366282	0.80[ASN][1000 genomes]
rs7775710	0.82[GIH][hapmap]
rs9349439	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9367308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369762	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381635	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381638	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9395336	HIVEP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13015000-13026000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:13015000-13026400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:13015600-13027600	Weak transcription	Right Atrium	heart
4	chr6:13015800-13029000	Weak transcription	Pancreas	Pancrea
5	chr6:13016200-13025800	Weak transcription	Fetal Brain Female	brain
6	chr6:13016200-13025800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:13020800-13028800	Weak transcription	Left Ventricle	heart
8	chr6:13021200-13026000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:13021200-13026200	Weak transcription	Aorta	Aorta
10	chr6:13021800-13026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:13023800-13025000	Enhancers	Brain Anterior Caudate	brain
12	chr6:13023800-13025200	Enhancers	Fetal Heart	heart
13	chr6:13023800-13025400	Enhancers	Brain Hippocampus Middle	brain
14	chr6:13023800-13026400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:13024000-13024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:13024000-13026400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:13024200-13026400	Weak transcription	Right Ventricle	heart
18	chr6:13024200-13026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:13024400-13025000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:13024600-13027000	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:13024600-13027600	Enhancers	Brain Angular Gyrus	brain
22	chr6:13024600-13030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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